Name: rs11466445
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs11466445

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:99105256-99105283 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(GCG)₆ / del(GCG)₅ / del(GCG)₄ …
del(GCG)₆ / del(GCG)₅ / del(GCG)₄ / del(GCG)₃ / del(GCG)₂ / delGCG / dupGCG / dup(GCG)₂ / dup(GCG)₃ / dup(GCG)₄ / dup(GCG)₅ / dup(GCG)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(GCG)₃=0.03428 (561/16364, ALFA)
del(GCG)₃=0.0513 (256/4988, 1000G)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TGFBR1 : Inframe Deletion
Publications: 20 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	16364	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.96566	GGCGGCGGCG=0.00000, GGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCG=0.03428, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00006, GGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00000	0.935949	0.004523	0.059528	32
European	Sub	12644	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.95626	GGCGGCGGCG=0.00000, GGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCG=0.04366, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00008, GGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00000	0.918526	0.005854	0.075621	30
African	Sub	2442	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.9975	GGCGGCGGCG=0.0000, GGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCG=0.0025, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000	0.995086	0.0	0.004914	0
African Others	Sub	98	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.99	GGCGGCGGCG=0.00, GGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCG=0.01, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00	0.979592	0.0	0.020408	0
African American	Sub	2344	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.9979	GGCGGCGGCG=0.0000, GGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCG=0.0021, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.0000	0.995734	0.0	0.004266	0
Asian	Sub	112	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=1.000	GGCGGCGGCG=0.000, GGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	86	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=1.00	GGCGGCGGCG=0.00, GGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=1.00	GGCGGCGGCG=0.00, GGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	112	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=1.000	GGCGGCGGCG=0.000, GGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	530	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=1.000	GGCGGCGGCG=0.000, GGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	92	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=1.00	GGCGGCGGCG=0.00, GGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.00	1.0	0.0	0.0	N/A
Other	Sub	432	GGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.993	GGCGGCGGCG=0.000, GGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCG=0.007, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000, GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG=0.000	0.986111	0.0	0.013889	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	16364	(GGC)₉G=0.96566	del(GCG)₆=0.00000, del(GCG)₅=0.00000, del(GCG)₄=0.00000, del(GCG)₃=0.03428, del(GCG)₂=0.00000, delGCG=0.00000, dupGCG=0.00006, dup(GCG)₂=0.00000, dup(GCG)₃=0.00000, dup(GCG)₄=0.00000, dup(GCG)₅=0.00000
Allele Frequency Aggregator	European	Sub	12644	(GGC)₉G=0.95626	del(GCG)₆=0.00000, del(GCG)₅=0.00000, del(GCG)₄=0.00000, del(GCG)₃=0.04366, del(GCG)₂=0.00000, delGCG=0.00000, dupGCG=0.00008, dup(GCG)₂=0.00000, dup(GCG)₃=0.00000, dup(GCG)₄=0.00000, dup(GCG)₅=0.00000
Allele Frequency Aggregator	African	Sub	2442	(GGC)₉G=0.9975	del(GCG)₆=0.0000, del(GCG)₅=0.0000, del(GCG)₄=0.0000, del(GCG)₃=0.0025, del(GCG)₂=0.0000, delGCG=0.0000, dupGCG=0.0000, dup(GCG)₂=0.0000, dup(GCG)₃=0.0000, dup(GCG)₄=0.0000, dup(GCG)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	530	(GGC)₉G=1.000	del(GCG)₆=0.000, del(GCG)₅=0.000, del(GCG)₄=0.000, del(GCG)₃=0.000, del(GCG)₂=0.000, delGCG=0.000, dupGCG=0.000, dup(GCG)₂=0.000, dup(GCG)₃=0.000, dup(GCG)₄=0.000, dup(GCG)₅=0.000
Allele Frequency Aggregator	Other	Sub	432	(GGC)₉G=0.993	del(GCG)₆=0.000, del(GCG)₅=0.000, del(GCG)₄=0.000, del(GCG)₃=0.007, del(GCG)₂=0.000, delGCG=0.000, dupGCG=0.000, dup(GCG)₂=0.000, dup(GCG)₃=0.000, dup(GCG)₄=0.000, dup(GCG)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	112	(GGC)₉G=1.000	del(GCG)₆=0.000, del(GCG)₅=0.000, del(GCG)₄=0.000, del(GCG)₃=0.000, del(GCG)₂=0.000, delGCG=0.000, dupGCG=0.000, dup(GCG)₂=0.000, dup(GCG)₃=0.000, dup(GCG)₄=0.000, dup(GCG)₅=0.000
Allele Frequency Aggregator	Asian	Sub	112	(GGC)₉G=1.000	del(GCG)₆=0.000, del(GCG)₅=0.000, del(GCG)₄=0.000, del(GCG)₃=0.000, del(GCG)₂=0.000, delGCG=0.000, dupGCG=0.000, dup(GCG)₂=0.000, dup(GCG)₃=0.000, dup(GCG)₄=0.000, dup(GCG)₅=0.000
Allele Frequency Aggregator	South Asian	Sub	92	(GGC)₉G=1.00	del(GCG)₆=0.00, del(GCG)₅=0.00, del(GCG)₄=0.00, del(GCG)₃=0.00, del(GCG)₂=0.00, delGCG=0.00, dupGCG=0.00, dup(GCG)₂=0.00, dup(GCG)₃=0.00, dup(GCG)₄=0.00, dup(GCG)₅=0.00
1000Genomes	Global	Study-wide	4988	(GGC)₉G=0.9487	del(GCG)₃=0.0513
1000Genomes	African	Sub	1307	(GGC)₉G=0.9449	del(GCG)₃=0.0551
1000Genomes	East Asian	Sub	1008	(GGC)₉G=0.9921	del(GCG)₃=0.0079
1000Genomes	Europe	Sub	1005	(GGC)₉G=0.9025	del(GCG)₃=0.0975
1000Genomes	South Asian	Sub	975	(GGC)₉G=0.962	del(GCG)₃=0.038
1000Genomes	American	Sub	693	(GGC)₉G=0.941	del(GCG)₃=0.059

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[3]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[4]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[5]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[6]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[7]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[8]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[10]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[11]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[12]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[13]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[14]
GRCh38.p14 chr 9	NC_000009.12:g.99105257GCG[15]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[3]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[4]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[5]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[6]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[7]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[8]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[10]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[11]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[12]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[13]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[14]
GRCh37.p13 chr 9	NC_000009.11:g.101867539GCG[15]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[3]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[4]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[5]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[6]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[7]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[8]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[10]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[11]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[12]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[13]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[14]
TGFBR1 RefSeqGene	NG_007461.1:g.5128GCG[15]

Gene: TGFBR1, transforming growth factor beta receptor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[3]	AAAAAAAAA [GCGGCGGCGGCGGC… AAAAAAAAA [GCGGCGGCGGCGGCGGCG] > AAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala21_Ala26… NP_004603.1:p.Ala21_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAA (AlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[4]	AAAAAAAAA [GCGGCGGCGGCGGC… AAAAAAAAA [GCGGCGGCGGCGGCG] > AAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala22_Ala26… NP_004603.1:p.Ala22_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAA (AlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[5]	AAAAAAAAA [GCGGCGGCGGCG] … AAAAAAAAA [GCGGCGGCGGCG] > AAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala23_Ala26… NP_004603.1:p.Ala23_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAA (AlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[6]	AAAAAAAAA [GCGGCGGCG] > A… AAAAAAAAA [GCGGCGGCG] > AAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala24_Ala26… NP_004603.1:p.Ala24_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[7]	AAAAAAAAA [GCGGCG] > AAAA… AAAAAAAAA [GCGGCG] > AAAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala25_Ala26… NP_004603.1:p.Ala25_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[8]	AAAAAAAAA [GCG] > AAAAAAA… AAAAAAAAA [GCG] > AAAAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[10]	AAAAAAAAA [CTG] > AAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAA [GCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[11]	AAAAAAAAA [CTG] > AAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAA [GCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala25_Ala26… NP_004603.1:p.Ala25_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[12]	AAAAAAAAA [CTG] > AAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAA [GCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala24_Ala26… NP_004603.1:p.Ala24_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[13]	AAAAAAAAA [CTG] > AAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAA [GCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala23_Ala26… NP_004603.1:p.Ala23_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[14]	AAAAAAAAA [CTG] > AAAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAAA [GCGGCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala22_Ala26… NP_004603.1:p.Ala22_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 1	NM_004612.4:c.52GCG[15]	AAAAAAAAA [CTG] > AAAAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAAAA [GCGGCGGCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Ala21_Ala26… NP_004603.1:p.Ala21_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[3]	AAAAAAAAA [GCGGCGGCGGCGGC… AAAAAAAAA [GCGGCGGCGGCGGCGGCG] > AAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala21_Al… NP_001124388.1:p.Ala21_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAA (AlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[4]	AAAAAAAAA [GCGGCGGCGGCGGC… AAAAAAAAA [GCGGCGGCGGCGGCG] > AAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala22_Al… NP_001124388.1:p.Ala22_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAA (AlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[5]	AAAAAAAAA [GCGGCGGCGGCG] … AAAAAAAAA [GCGGCGGCGGCG] > AAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala23_Al… NP_001124388.1:p.Ala23_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAA (AlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[6]	AAAAAAAAA [GCGGCGGCG] > A… AAAAAAAAA [GCGGCGGCG] > AAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala24_Al… NP_001124388.1:p.Ala24_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[7]	AAAAAAAAA [GCGGCG] > AAAA… AAAAAAAAA [GCGGCG] > AAAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala25_Al… NP_001124388.1:p.Ala25_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[8]	AAAAAAAAA [GCG] > AAAAAAA… AAAAAAAAA [GCG] > AAAAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[10]	AAAAAAAAA [CTG] > AAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAA [GCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[11]	AAAAAAAAA [CTG] > AAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAA [GCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala25_Al… NP_001124388.1:p.Ala25_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[12]	AAAAAAAAA [CTG] > AAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAA [GCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala24_Al… NP_001124388.1:p.Ala24_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[13]	AAAAAAAAA [CTG] > AAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAA [GCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala23_Al… NP_001124388.1:p.Ala23_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[14]	AAAAAAAAA [CTG] > AAAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAAA [GCGGCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala22_Al… NP_001124388.1:p.Ala22_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 2	NM_001130916.3:c.52GCG[15]	AAAAAAAAA [CTG] > AAAAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAAAA [GCGGCGGCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Ala21_Al… NP_001124388.1:p.Ala21_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[3]	AAAAAAAAA [GCGGCGGCGGCGGC… AAAAAAAAA [GCGGCGGCGGCGGCGGCG] > AAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala21_Al… NP_001293139.1:p.Ala21_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAA (AlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[4]	AAAAAAAAA [GCGGCGGCGGCGGC… AAAAAAAAA [GCGGCGGCGGCGGCG] > AAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala22_Al… NP_001293139.1:p.Ala22_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAA (AlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[5]	AAAAAAAAA [GCGGCGGCGGCG] … AAAAAAAAA [GCGGCGGCGGCG] > AAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala23_Al… NP_001293139.1:p.Ala23_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAA (AlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[6]	AAAAAAAAA [GCGGCGGCG] > A… AAAAAAAAA [GCGGCGGCG] > AAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala24_Al… NP_001293139.1:p.Ala24_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAA (AlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[7]	AAAAAAAAA [GCGGCG] > AAAA… AAAAAAAAA [GCGGCG] > AAAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala25_Al… NP_001293139.1:p.Ala25_Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAA (AlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[8]	AAAAAAAAA [GCG] > AAAAAAA… AAAAAAAAA [GCG] > AAAAAAAA []	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala26del	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAla)	Inframe Deletion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[10]	AAAAAAAAA [CTG] > AAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAA [GCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[11]	AAAAAAAAA [CTG] > AAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAA [GCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala25_Al… NP_001293139.1:p.Ala25_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[12]	AAAAAAAAA [CTG] > AAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAA [GCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala24_Al… NP_001293139.1:p.Ala24_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[13]	AAAAAAAAA [CTG] > AAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAA [GCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala23_Al… NP_001293139.1:p.Ala23_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[14]	AAAAAAAAA [CTG] > AAAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAAA [GCGGCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala22_Al… NP_001293139.1:p.Ala22_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant 3	NM_001306210.2:c.52GCG[15]	AAAAAAAAA [CTG] > AAAAAAAAAAAAAAA [... AAAAAAAAA [CTG] > AAAAAAAAAAAAAAA [GCGGCGGCGGCGGCGGCGCTG]	Coding Sequence Variant
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Ala21_Al… NP_001293139.1:p.Ala21_Ala26dup	AAAAAAAAA (AlaAlaAlaAlaAl… AAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAla) > AAAAAAAAAAAAAAA (AlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	Inframe Insertion
TGFBR1 transcript variant X2	XM_011518949.3:c.-111+115… XM_011518949.3:c.-111+1150GGC[3]	N/A	Intron Variant
TGFBR1 transcript variant X1	XM_011518948.3:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: del(GCG)₆ (allele ID: 1428052 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001926829.3	Familial thoracic aortic aneurysm and aortic dissection	Uncertain-Significance

Allele: del(GCG)₅ (allele ID: 487460 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000588865.4	not provided	Conflicting-Interpretations-Of-Pathogenicity

Allele: del(GCG)₄ (allele ID: 503073 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001069917.4	Familial thoracic aortic aneurysm and aortic dissection	Uncertain-Significance
RCV001719118.3	not provided	Likely-Benign

Allele: del(GCG)₃ (allele ID: 174853 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000152000.19	not specified	Benign
RCV000203000.6	Loeys-Dietz syndrome	Benign-Likely-Benign
RCV000206714.15	Familial thoracic aortic aneurysm and aortic dissection	Benign
RCV000263723.5	Loeys-Dietz syndrome 1	Benign
RCV000617041.2	Cardiovascular phenotype	Benign
RCV000755402.10	not provided	Benign
RCV002277299.1	Ehlers-Danlos syndrome	Benign

Allele: del(GCG)₂ (allele ID: 258605 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000246749.2	Cardiovascular phenotype	Benign
RCV000865938.8	Familial thoracic aortic aneurysm and aortic dissection	Benign
RCV001705391.2	not provided	Likely-Benign

Allele: delGCG (allele ID: 210154 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000199722.11	not specified	Likely-Benign
RCV000246233.11	Familial thoracic aortic aneurysm and aortic dissection	Benign-Likely-Benign
RCV001722085.5	not provided	Benign
RCV002277547.1	Ehlers-Danlos syndrome	Likely-Benign

Allele: dupGCG (allele ID: 210155 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000195794.11	not specified	Conflicting-Interpretations-Of-Pathogenicity
RCV000526310.12	Familial thoracic aortic aneurysm and aortic dissection	Likely-Benign
RCV001579589.5	not provided	Likely-Benign

Allele: dup(GCG)₂ (allele ID: 487391 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000590468.5	not provided	Conflicting-Interpretations-Of-Pathogenicity
RCV000704697.5	Familial thoracic aortic aneurysm and aortic dissection	Uncertain-Significance

Allele: dup(GCG)₃ (allele ID: 397511 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000465262.6	Familial thoracic aortic aneurysm and aortic dissection	Uncertain-Significance
RCV001704558.5	not provided	Conflicting-Interpretations-Of-Pathogenicity

Allele: dup(GCG)₄ (allele ID: 525228 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000654792.4	Familial thoracic aortic aneurysm and aortic dissection	Uncertain-Significance

Allele: dup(GCG)₅ (allele ID: 1008815 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001326875.4	Familial thoracic aortic aneurysm and aortic dissection	Uncertain-Significance

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(GGC)₉G=	del(GCG)₆	del(GCG)₅	del(GCG)₄	del(GCG)₃	del(GCG)₂	delGCG	dupGCG	dup(GCG)₂	dup(GCG)₃	dup(GCG)₄	dup(GCG)₅	dup(GCG)₆
GRCh38.p14 chr 9	NC_000009.12:g.99105256_99105283=	NC_000009.12:g.99105257GCG[3]	NC_000009.12:g.99105257GCG[4]	NC_000009.12:g.99105257GCG[5]	NC_000009.12:g.99105257GCG[6]	NC_000009.12:g.99105257GCG[7]	NC_000009.12:g.99105257GCG[8]	NC_000009.12:g.99105257GCG[10]	NC_000009.12:g.99105257GCG[11]	NC_000009.12:g.99105257GCG[12]	NC_000009.12:g.99105257GCG[13]	NC_000009.12:g.99105257GCG[14]	NC_000009.12:g.99105257GCG[15]
GRCh37.p13 chr 9	NC_000009.11:g.101867538_101867565=	NC_000009.11:g.101867539GCG[3]	NC_000009.11:g.101867539GCG[4]	NC_000009.11:g.101867539GCG[5]	NC_000009.11:g.101867539GCG[6]	NC_000009.11:g.101867539GCG[7]	NC_000009.11:g.101867539GCG[8]	NC_000009.11:g.101867539GCG[10]	NC_000009.11:g.101867539GCG[11]	NC_000009.11:g.101867539GCG[12]	NC_000009.11:g.101867539GCG[13]	NC_000009.11:g.101867539GCG[14]	NC_000009.11:g.101867539GCG[15]
TGFBR1 RefSeqGene	NG_007461.1:g.5127_5154=	NG_007461.1:g.5128GCG[3]	NG_007461.1:g.5128GCG[4]	NG_007461.1:g.5128GCG[5]	NG_007461.1:g.5128GCG[6]	NG_007461.1:g.5128GCG[7]	NG_007461.1:g.5128GCG[8]	NG_007461.1:g.5128GCG[10]	NG_007461.1:g.5128GCG[11]	NG_007461.1:g.5128GCG[12]	NG_007461.1:g.5128GCG[13]	NG_007461.1:g.5128GCG[14]	NG_007461.1:g.5128GCG[15]
TGFBR1 transcript variant 1	NM_004612.4:c.51_78=	NM_004612.4:c.52GCG[3]	NM_004612.4:c.52GCG[4]	NM_004612.4:c.52GCG[5]	NM_004612.4:c.52GCG[6]	NM_004612.4:c.52GCG[7]	NM_004612.4:c.52GCG[8]	NM_004612.4:c.52GCG[10]	NM_004612.4:c.52GCG[11]	NM_004612.4:c.52GCG[12]	NM_004612.4:c.52GCG[13]	NM_004612.4:c.52GCG[14]	NM_004612.4:c.52GCG[15]
TGFBR1 transcript variant 1	NM_004612.3:c.51_78=	NM_004612.3:c.52GCG[3]	NM_004612.3:c.52GCG[4]	NM_004612.3:c.52GCG[5]	NM_004612.3:c.52GCG[6]	NM_004612.3:c.52GCG[7]	NM_004612.3:c.52GCG[8]	NM_004612.3:c.52GCG[10]	NM_004612.3:c.52GCG[11]	NM_004612.3:c.52GCG[12]	NM_004612.3:c.52GCG[13]	NM_004612.3:c.52GCG[14]	NM_004612.3:c.52GCG[15]
TGFBR1 transcript variant 1	NM_004612.2:c.51_78=	NM_004612.2:c.52GCG[3]	NM_004612.2:c.52GCG[4]	NM_004612.2:c.52GCG[5]	NM_004612.2:c.52GCG[6]	NM_004612.2:c.52GCG[7]	NM_004612.2:c.52GCG[8]	NM_004612.2:c.52GCG[10]	NM_004612.2:c.52GCG[11]	NM_004612.2:c.52GCG[12]	NM_004612.2:c.52GCG[13]	NM_004612.2:c.52GCG[14]	NM_004612.2:c.52GCG[15]
TGFBR1 transcript variant 2	NM_001130916.3:c.51_78=	NM_001130916.3:c.52GCG[3]	NM_001130916.3:c.52GCG[4]	NM_001130916.3:c.52GCG[5]	NM_001130916.3:c.52GCG[6]	NM_001130916.3:c.52GCG[7]	NM_001130916.3:c.52GCG[8]	NM_001130916.3:c.52GCG[10]	NM_001130916.3:c.52GCG[11]	NM_001130916.3:c.52GCG[12]	NM_001130916.3:c.52GCG[13]	NM_001130916.3:c.52GCG[14]	NM_001130916.3:c.52GCG[15]
TGFBR1 transcript variant 2	NM_001130916.2:c.51_78=	NM_001130916.2:c.52GCG[3]	NM_001130916.2:c.52GCG[4]	NM_001130916.2:c.52GCG[5]	NM_001130916.2:c.52GCG[6]	NM_001130916.2:c.52GCG[7]	NM_001130916.2:c.52GCG[8]	NM_001130916.2:c.52GCG[10]	NM_001130916.2:c.52GCG[11]	NM_001130916.2:c.52GCG[12]	NM_001130916.2:c.52GCG[13]	NM_001130916.2:c.52GCG[14]	NM_001130916.2:c.52GCG[15]
TGFBR1 transcript variant 2	NM_001130916.1:c.51_78=	NM_001130916.1:c.52GCG[3]	NM_001130916.1:c.52GCG[4]	NM_001130916.1:c.52GCG[5]	NM_001130916.1:c.52GCG[6]	NM_001130916.1:c.52GCG[7]	NM_001130916.1:c.52GCG[8]	NM_001130916.1:c.52GCG[10]	NM_001130916.1:c.52GCG[11]	NM_001130916.1:c.52GCG[12]	NM_001130916.1:c.52GCG[13]	NM_001130916.1:c.52GCG[14]	NM_001130916.1:c.52GCG[15]
TGFBR1 transcript variant 3	NM_001306210.2:c.51_78=	NM_001306210.2:c.52GCG[3]	NM_001306210.2:c.52GCG[4]	NM_001306210.2:c.52GCG[5]	NM_001306210.2:c.52GCG[6]	NM_001306210.2:c.52GCG[7]	NM_001306210.2:c.52GCG[8]	NM_001306210.2:c.52GCG[10]	NM_001306210.2:c.52GCG[11]	NM_001306210.2:c.52GCG[12]	NM_001306210.2:c.52GCG[13]	NM_001306210.2:c.52GCG[14]	NM_001306210.2:c.52GCG[15]
TGFBR1 transcript variant 3	NM_001306210.1:c.51_78=	NM_001306210.1:c.52GCG[3]	NM_001306210.1:c.52GCG[4]	NM_001306210.1:c.52GCG[5]	NM_001306210.1:c.52GCG[6]	NM_001306210.1:c.52GCG[7]	NM_001306210.1:c.52GCG[8]	NM_001306210.1:c.52GCG[10]	NM_001306210.1:c.52GCG[11]	NM_001306210.1:c.52GCG[12]	NM_001306210.1:c.52GCG[13]	NM_001306210.1:c.52GCG[14]	NM_001306210.1:c.52GCG[15]
TGFBR1 transcript variant 8	NM_001407420.1:c.-293_-266=	NM_001407420.1:c.-292GCG[3]	NM_001407420.1:c.-292GCG[4]	NM_001407420.1:c.-292GCG[5]	NM_001407420.1:c.-292GCG[6]	NM_001407420.1:c.-292GCG[7]	NM_001407420.1:c.-292GCG[8]	NM_001407420.1:c.-292GCG[10]	NM_001407420.1:c.-292GCG[11]	NM_001407420.1:c.-292GCG[12]	NM_001407420.1:c.-292GCG[13]	NM_001407420.1:c.-292GCG[14]	NM_001407420.1:c.-292GCG[15]
TGFBR1 transcript variant 16	NM_001407429.1:c.-293_-266=	NM_001407429.1:c.-292GCG[3]	NM_001407429.1:c.-292GCG[4]	NM_001407429.1:c.-292GCG[5]	NM_001407429.1:c.-292GCG[6]	NM_001407429.1:c.-292GCG[7]	NM_001407429.1:c.-292GCG[8]	NM_001407429.1:c.-292GCG[10]	NM_001407429.1:c.-292GCG[11]	NM_001407429.1:c.-292GCG[12]	NM_001407429.1:c.-292GCG[13]	NM_001407429.1:c.-292GCG[14]	NM_001407429.1:c.-292GCG[15]
TGFBR1 transcript variant 9	NM_001407422.1:c.-262_-235=	NM_001407422.1:c.-261GCG[3]	NM_001407422.1:c.-261GCG[4]	NM_001407422.1:c.-261GCG[5]	NM_001407422.1:c.-261GCG[6]	NM_001407422.1:c.-261GCG[7]	NM_001407422.1:c.-261GCG[8]	NM_001407422.1:c.-261GCG[10]	NM_001407422.1:c.-261GCG[11]	NM_001407422.1:c.-261GCG[12]	NM_001407422.1:c.-261GCG[13]	NM_001407422.1:c.-261GCG[14]	NM_001407422.1:c.-261GCG[15]
TGFBR1 transcript variant 26	NR_176361.1:n.144_171=	NR_176361.1:n.145GCG[3]	NR_176361.1:n.145GCG[4]	NR_176361.1:n.145GCG[5]	NR_176361.1:n.145GCG[6]	NR_176361.1:n.145GCG[7]	NR_176361.1:n.145GCG[8]	NR_176361.1:n.145GCG[10]	NR_176361.1:n.145GCG[11]	NR_176361.1:n.145GCG[12]	NR_176361.1:n.145GCG[13]	NR_176361.1:n.145GCG[14]	NR_176361.1:n.145GCG[15]
TGFBR1 transcript variant 13	NM_001407426.1:c.-262_-235=	NM_001407426.1:c.-261GCG[3]	NM_001407426.1:c.-261GCG[4]	NM_001407426.1:c.-261GCG[5]	NM_001407426.1:c.-261GCG[6]	NM_001407426.1:c.-261GCG[7]	NM_001407426.1:c.-261GCG[8]	NM_001407426.1:c.-261GCG[10]	NM_001407426.1:c.-261GCG[11]	NM_001407426.1:c.-261GCG[12]	NM_001407426.1:c.-261GCG[13]	NM_001407426.1:c.-261GCG[14]	NM_001407426.1:c.-261GCG[15]
TGFBR1 transcript variant 15	NM_001407428.1:c.-217_-190=	NM_001407428.1:c.-216GCG[3]	NM_001407428.1:c.-216GCG[4]	NM_001407428.1:c.-216GCG[5]	NM_001407428.1:c.-216GCG[6]	NM_001407428.1:c.-216GCG[7]	NM_001407428.1:c.-216GCG[8]	NM_001407428.1:c.-216GCG[10]	NM_001407428.1:c.-216GCG[11]	NM_001407428.1:c.-216GCG[12]	NM_001407428.1:c.-216GCG[13]	NM_001407428.1:c.-216GCG[14]	NM_001407428.1:c.-216GCG[15]
TGFBR1 transcript variant 25	NR_176360.1:n.144_171=	NR_176360.1:n.145GCG[3]	NR_176360.1:n.145GCG[4]	NR_176360.1:n.145GCG[5]	NR_176360.1:n.145GCG[6]	NR_176360.1:n.145GCG[7]	NR_176360.1:n.145GCG[8]	NR_176360.1:n.145GCG[10]	NR_176360.1:n.145GCG[11]	NR_176360.1:n.145GCG[12]	NR_176360.1:n.145GCG[13]	NR_176360.1:n.145GCG[14]	NR_176360.1:n.145GCG[15]
TGFBR1 transcript variant 27	NR_176362.1:n.144_171=	NR_176362.1:n.145GCG[3]	NR_176362.1:n.145GCG[4]	NR_176362.1:n.145GCG[5]	NR_176362.1:n.145GCG[6]	NR_176362.1:n.145GCG[7]	NR_176362.1:n.145GCG[8]	NR_176362.1:n.145GCG[10]	NR_176362.1:n.145GCG[11]	NR_176362.1:n.145GCG[12]	NR_176362.1:n.145GCG[13]	NR_176362.1:n.145GCG[14]	NR_176362.1:n.145GCG[15]
TGFBR1 transcript variant 28	NR_176363.1:n.144_171=	NR_176363.1:n.145GCG[3]	NR_176363.1:n.145GCG[4]	NR_176363.1:n.145GCG[5]	NR_176363.1:n.145GCG[6]	NR_176363.1:n.145GCG[7]	NR_176363.1:n.145GCG[8]	NR_176363.1:n.145GCG[10]	NR_176363.1:n.145GCG[11]	NR_176363.1:n.145GCG[12]	NR_176363.1:n.145GCG[13]	NR_176363.1:n.145GCG[14]	NR_176363.1:n.145GCG[15]
TGFBR1 transcript variant 4	NM_001407416.1:c.51_78=	NM_001407416.1:c.52GCG[3]	NM_001407416.1:c.52GCG[4]	NM_001407416.1:c.52GCG[5]	NM_001407416.1:c.52GCG[6]	NM_001407416.1:c.52GCG[7]	NM_001407416.1:c.52GCG[8]	NM_001407416.1:c.52GCG[10]	NM_001407416.1:c.52GCG[11]	NM_001407416.1:c.52GCG[12]	NM_001407416.1:c.52GCG[13]	NM_001407416.1:c.52GCG[14]	NM_001407416.1:c.52GCG[15]
TGFBR1 transcript variant 5	NM_001407417.1:c.51_78=	NM_001407417.1:c.52GCG[3]	NM_001407417.1:c.52GCG[4]	NM_001407417.1:c.52GCG[5]	NM_001407417.1:c.52GCG[6]	NM_001407417.1:c.52GCG[7]	NM_001407417.1:c.52GCG[8]	NM_001407417.1:c.52GCG[10]	NM_001407417.1:c.52GCG[11]	NM_001407417.1:c.52GCG[12]	NM_001407417.1:c.52GCG[13]	NM_001407417.1:c.52GCG[14]	NM_001407417.1:c.52GCG[15]
TGFBR1 transcript variant 21	NM_001407435.1:c.51_78=	NM_001407435.1:c.52GCG[3]	NM_001407435.1:c.52GCG[4]	NM_001407435.1:c.52GCG[5]	NM_001407435.1:c.52GCG[6]	NM_001407435.1:c.52GCG[7]	NM_001407435.1:c.52GCG[8]	NM_001407435.1:c.52GCG[10]	NM_001407435.1:c.52GCG[11]	NM_001407435.1:c.52GCG[12]	NM_001407435.1:c.52GCG[13]	NM_001407435.1:c.52GCG[14]	NM_001407435.1:c.52GCG[15]
TGFBR1 transcript variant 22	NM_001407436.1:c.51_78=	NM_001407436.1:c.52GCG[3]	NM_001407436.1:c.52GCG[4]	NM_001407436.1:c.52GCG[5]	NM_001407436.1:c.52GCG[6]	NM_001407436.1:c.52GCG[7]	NM_001407436.1:c.52GCG[8]	NM_001407436.1:c.52GCG[10]	NM_001407436.1:c.52GCG[11]	NM_001407436.1:c.52GCG[12]	NM_001407436.1:c.52GCG[13]	NM_001407436.1:c.52GCG[14]	NM_001407436.1:c.52GCG[15]
TGFBR1 transcript variant 23	NM_001407438.1:c.51_78=	NM_001407438.1:c.52GCG[3]	NM_001407438.1:c.52GCG[4]	NM_001407438.1:c.52GCG[5]	NM_001407438.1:c.52GCG[6]	NM_001407438.1:c.52GCG[7]	NM_001407438.1:c.52GCG[8]	NM_001407438.1:c.52GCG[10]	NM_001407438.1:c.52GCG[11]	NM_001407438.1:c.52GCG[12]	NM_001407438.1:c.52GCG[13]	NM_001407438.1:c.52GCG[14]	NM_001407438.1:c.52GCG[15]
TGFBR1 transcript variant 24	NM_001407437.1:c.51_78=	NM_001407437.1:c.52GCG[3]	NM_001407437.1:c.52GCG[4]	NM_001407437.1:c.52GCG[5]	NM_001407437.1:c.52GCG[6]	NM_001407437.1:c.52GCG[7]	NM_001407437.1:c.52GCG[8]	NM_001407437.1:c.52GCG[10]	NM_001407437.1:c.52GCG[11]	NM_001407437.1:c.52GCG[12]	NM_001407437.1:c.52GCG[13]	NM_001407437.1:c.52GCG[14]	NM_001407437.1:c.52GCG[15]
TGF-beta receptor type-1 isoform 1 precursor	NP_004603.1:p.Leu17_Ala26=	NP_004603.1:p.Ala21_Ala26del	NP_004603.1:p.Ala22_Ala26del	NP_004603.1:p.Ala23_Ala26del	NP_004603.1:p.Ala24_Ala26del	NP_004603.1:p.Ala25_Ala26del	NP_004603.1:p.Ala26del	NP_004603.1:p.Ala26dup	NP_004603.1:p.Ala25_Ala26dup	NP_004603.1:p.Ala24_Ala26dup	NP_004603.1:p.Ala23_Ala26dup	NP_004603.1:p.Ala22_Ala26dup	NP_004603.1:p.Ala21_Ala26dup
TGF-beta receptor type-1 isoform 2 precursor	NP_001124388.1:p.Leu17_Ala26=	NP_001124388.1:p.Ala21_Ala26del	NP_001124388.1:p.Ala22_Ala26del	NP_001124388.1:p.Ala23_Ala26del	NP_001124388.1:p.Ala24_Ala26del	NP_001124388.1:p.Ala25_Ala26del	NP_001124388.1:p.Ala26del	NP_001124388.1:p.Ala26dup	NP_001124388.1:p.Ala25_Ala26dup	NP_001124388.1:p.Ala24_Ala26dup	NP_001124388.1:p.Ala23_Ala26dup	NP_001124388.1:p.Ala22_Ala26dup	NP_001124388.1:p.Ala21_Ala26dup
TGF-beta receptor type-1 isoform 3 precursor	NP_001293139.1:p.Leu17_Ala26=	NP_001293139.1:p.Ala21_Ala26del	NP_001293139.1:p.Ala22_Ala26del	NP_001293139.1:p.Ala23_Ala26del	NP_001293139.1:p.Ala24_Ala26del	NP_001293139.1:p.Ala25_Ala26del	NP_001293139.1:p.Ala26del	NP_001293139.1:p.Ala26dup	NP_001293139.1:p.Ala25_Ala26dup	NP_001293139.1:p.Ala24_Ala26dup	NP_001293139.1:p.Ala23_Ala26dup	NP_001293139.1:p.Ala22_Ala26dup	NP_001293139.1:p.Ala21_Ala26dup
TGFBR1 transcript variant X2	XM_011518949.3:c.-111+1150=	XM_011518949.3:c.-111+1150GGC[3]	XM_011518949.3:c.-111+1150GGC[4]	XM_011518949.3:c.-111+1150GGC[5]	XM_011518949.3:c.-111+1150GGC[6]	XM_011518949.3:c.-111+1150GGC[7]	XM_011518949.3:c.-111+1150GGC[8]	XM_011518949.3:c.-111+1150GGC[10]	XM_011518949.3:c.-111+1150GGC[11]	XM_011518949.3:c.-111+1150GGC[12]	XM_011518949.3:c.-111+1150GGC[13]	XM_011518949.3:c.-111+1150GGC[14]	XM_011518949.3:c.-111+1150GGC[15]

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

63 SubSNP, 36 Frequency, 27 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	IIPGA-WEISS-MARTINEZ	ss15356789	Feb 28, 2004 (120)
2	1000GENOMES	ss1368539259	Aug 21, 2014 (136)
3	1000GENOMES	ss1368539263	Aug 21, 2014 (136)
4	EVA_EXAC	ss1711915638	Apr 01, 2015 (136)
5	EVA_EXAC	ss1711915639	Oct 12, 2018 (152)
6	CLINVAR	ss1960973297	Dec 03, 2015 (146)
7	CLINVAR	ss1960973298	Oct 12, 2018 (152)
8	CLINVAR	ss2136310601	Nov 14, 2016 (149)
9	CLINVAR	ss2137513621	Oct 12, 2018 (152)
10	SWEGEN	ss3005308431	Nov 08, 2017 (151)
11	KOEX	ss3029675620	Nov 08, 2017 (151)
12	EVA_DECODE	ss3724409125	Jul 13, 2019 (153)
13	EVA_DECODE	ss3724409126	Jul 13, 2019 (153)
14	EVA_DECODE	ss3724409127	Jul 13, 2019 (153)
15	EVA_DECODE	ss3724409128	Jul 13, 2019 (153)
16	ACPOP	ss3736722025	Jul 13, 2019 (153)
17	ACPOP	ss3736722026	Jul 13, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3812640040	Jul 13, 2019 (153)
19	KOGIC	ss3966403909	Apr 26, 2020 (154)
20	KOGIC	ss3966403910	Apr 26, 2020 (154)
21	KOGIC	ss3966403911	Apr 26, 2020 (154)
22	KOGIC	ss3966403912	Apr 26, 2020 (154)
23	GNOMAD	ss4206439888	Apr 26, 2021 (155)
24	GNOMAD	ss4206439889	Apr 26, 2021 (155)
25	GNOMAD	ss4206439890	Apr 26, 2021 (155)
26	GNOMAD	ss4206439891	Apr 26, 2021 (155)
27	GNOMAD	ss4206439892	Apr 26, 2021 (155)
28	GNOMAD	ss4206439893	Apr 26, 2021 (155)
29	GNOMAD	ss4206439894	Apr 26, 2021 (155)
30	GNOMAD	ss4206439895	Apr 26, 2021 (155)
31	GNOMAD	ss4206439896	Apr 26, 2021 (155)
32	GNOMAD	ss4206439897	Apr 26, 2021 (155)
33	GNOMAD	ss4206439898	Apr 26, 2021 (155)
34	TOPMED	ss4829531691	Apr 26, 2021 (155)
35	TOPMED	ss4829531692	Apr 26, 2021 (155)
36	EVA	ss5141947439	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5194514242	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5194514243	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5194514244	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5194514245	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5194514246	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5194514247	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5281572623	Oct 13, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5281572624	Oct 13, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5281572625	Oct 13, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5281572626	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5281572627	Oct 13, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5281572628	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5477497472	Oct 13, 2022 (156)
50	HUGCELL_USP	ss5477497473	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5477497474	Oct 13, 2022 (156)
52	EVA	ss5624186061	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5738816061	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5738816062	Oct 13, 2022 (156)
55	TOMMO_GENOMICS	ss5738816063	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5738816064	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5738816065	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5738816066	Oct 13, 2022 (156)
59	EVA	ss5829508048	Oct 13, 2022 (156)
60	EVA	ss5829508049	Oct 13, 2022 (156)
61	EVA	ss5848726372	Oct 13, 2022 (156)
62	EVA	ss5848726373	Oct 13, 2022 (156)
63	EVA	ss5935996537	Oct 13, 2022 (156)
64	1000Genomes	NC_000009.11 - 101867538	Oct 12, 2018 (152)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 332642196 (NC_000009.12:99105255::GGC 108/131096) Row 332642197 (NC_000009.12:99105255::GGCGGC 26/131100) Row 332642198 (NC_000009.12:99105255::GGCGGCGGC 9/131100)...	-	Apr 26, 2021 (155)
76	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6935497 (NC_000009.11:101867537::GGC 1/584) Row 6935498 (NC_000009.11:101867537:GGC: 3/584) Row 6935499 (NC_000009.11:101867537:GGCGGCGGC: 34/584)	-	Jul 13, 2019 (153)
77	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6935497 (NC_000009.11:101867537::GGC 1/584) Row 6935498 (NC_000009.11:101867537:GGC: 3/584) Row 6935499 (NC_000009.11:101867537:GGCGGCGGC: 34/584)	-	Jul 13, 2019 (153)
78	gnomAD - Exomes Submission ignored due to conflicting rows: Row 6935497 (NC_000009.11:101867537::GGC 1/584) Row 6935498 (NC_000009.11:101867537:GGC: 3/584) Row 6935499 (NC_000009.11:101867537:GGCGGCGGC: 34/584)	-	Jul 13, 2019 (153)
79	Korean Genome Project Submission ignored due to conflicting rows: Row 22781910 (NC_000009.12:99105267::GGC 2/1744) Row 22781911 (NC_000009.12:99105258:GGCGGCGGC: 1/1744) Row 22781912 (NC_000009.12:99105255:GGCGGCGGCGGC: 1/1744)...	-	Apr 26, 2020 (154)
80	Korean Genome Project Submission ignored due to conflicting rows: Row 22781910 (NC_000009.12:99105267::GGC 2/1744) Row 22781911 (NC_000009.12:99105258:GGCGGCGGC: 1/1744) Row 22781912 (NC_000009.12:99105255:GGCGGCGGCGGC: 1/1744)...	-	Apr 26, 2020 (154)
81	Korean Genome Project Submission ignored due to conflicting rows: Row 22781910 (NC_000009.12:99105267::GGC 2/1744) Row 22781911 (NC_000009.12:99105258:GGCGGCGGC: 1/1744) Row 22781912 (NC_000009.12:99105255:GGCGGCGGCGGC: 1/1744)...	-	Apr 26, 2020 (154)
82	Korean Genome Project Submission ignored due to conflicting rows: Row 22781910 (NC_000009.12:99105267::GGC 2/1744) Row 22781911 (NC_000009.12:99105258:GGCGGCGGC: 1/1744) Row 22781912 (NC_000009.12:99105255:GGCGGCGGCGGC: 1/1744)...	-	Apr 26, 2020 (154)
83	Northern Sweden Submission ignored due to conflicting rows: Row 10006890 (NC_000009.11:101867537:GGCGGCGGC: 60/598) Row 10006891 (NC_000009.11:101867537::GGCGGC 1/598)	-	Jul 13, 2019 (153)
84	Northern Sweden Submission ignored due to conflicting rows: Row 10006890 (NC_000009.11:101867537:GGCGGCGGC: 60/598) Row 10006891 (NC_000009.11:101867537::GGCGGC 1/598)	-	Jul 13, 2019 (153)
85	8.3KJPN Submission ignored due to conflicting rows: Row 52483549 (NC_000009.11:101867537::GGC 14/16748) Row 52483550 (NC_000009.11:101867537::GGCGGC 4/16748) Row 52483551 (NC_000009.11:101867537:GGCGGCGGC: 14/16748)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 52483549 (NC_000009.11:101867537::GGC 14/16748) Row 52483550 (NC_000009.11:101867537::GGCGGC 4/16748) Row 52483551 (NC_000009.11:101867537:GGCGGCGGC: 14/16748)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 52483549 (NC_000009.11:101867537::GGC 14/16748) Row 52483550 (NC_000009.11:101867537::GGCGGC 4/16748) Row 52483551 (NC_000009.11:101867537:GGCGGCGGC: 14/16748)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 52483549 (NC_000009.11:101867537::GGC 14/16748) Row 52483550 (NC_000009.11:101867537::GGCGGC 4/16748) Row 52483551 (NC_000009.11:101867537:GGCGGCGGC: 14/16748)...	-	Apr 26, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 52483549 (NC_000009.11:101867537::GGC 14/16748) Row 52483550 (NC_000009.11:101867537::GGCGGC 4/16748) Row 52483551 (NC_000009.11:101867537:GGCGGCGGC: 14/16748)...	-	Apr 26, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 52483549 (NC_000009.11:101867537::GGC 14/16748) Row 52483550 (NC_000009.11:101867537::GGCGGC 4/16748) Row 52483551 (NC_000009.11:101867537:GGCGGCGGC: 14/16748)...	-	Apr 26, 2021 (155)
91	14KJPN Submission ignored due to conflicting rows: Row 72653165 (NC_000009.12:99105255::GGCGGC 6/28244) Row 72653166 (NC_000009.12:99105255::GGC 26/28244) Row 72653167 (NC_000009.12:99105255:GGCGGCGGC: 20/28244)...	-	Oct 13, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 72653165 (NC_000009.12:99105255::GGCGGC 6/28244) Row 72653166 (NC_000009.12:99105255::GGC 26/28244) Row 72653167 (NC_000009.12:99105255:GGCGGCGGC: 20/28244)...	-	Oct 13, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 72653165 (NC_000009.12:99105255::GGCGGC 6/28244) Row 72653166 (NC_000009.12:99105255::GGC 26/28244) Row 72653167 (NC_000009.12:99105255:GGCGGCGGC: 20/28244)...	-	Oct 13, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 72653165 (NC_000009.12:99105255::GGCGGC 6/28244) Row 72653166 (NC_000009.12:99105255::GGC 26/28244) Row 72653167 (NC_000009.12:99105255:GGCGGCGGC: 20/28244)...	-	Oct 13, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 72653165 (NC_000009.12:99105255::GGCGGC 6/28244) Row 72653166 (NC_000009.12:99105255::GGC 26/28244) Row 72653167 (NC_000009.12:99105255:GGCGGCGGC: 20/28244)...	-	Oct 13, 2022 (156)
96	14KJPN Submission ignored due to conflicting rows: Row 72653165 (NC_000009.12:99105255::GGCGGC 6/28244) Row 72653166 (NC_000009.12:99105255::GGC 26/28244) Row 72653167 (NC_000009.12:99105255:GGCGGCGGC: 20/28244)...	-	Oct 13, 2022 (156)
97	TopMed Submission ignored due to conflicting rows: Row 666909252 (NC_000009.12:99105255:GGCGGCGGC: 19521/264690) Row 666909253 (NC_000009.12:99105255:GGCGGCGGCGGCGGCGGC: 4/264690)	-	Apr 26, 2021 (155)
98	TopMed Submission ignored due to conflicting rows: Row 666909252 (NC_000009.12:99105255:GGCGGCGGC: 19521/264690) Row 666909253 (NC_000009.12:99105255:GGCGGCGGCGGCGGCGGC: 4/264690)	-	Apr 26, 2021 (155)
99	ALFA	NC_000009.12 - 99105256	Apr 26, 2021 (155)
100	ClinVar	RCV000152000.19	Oct 13, 2022 (156)
101	ClinVar	RCV000195794.11	Oct 13, 2022 (156)
102	ClinVar	RCV000199722.11	Oct 13, 2022 (156)
103	ClinVar	RCV000203000.6	Oct 13, 2022 (156)
104	ClinVar	RCV000206714.15	Oct 13, 2022 (156)
105	ClinVar	RCV000246233.11	Oct 13, 2022 (156)
106	ClinVar	RCV000246749.2	Oct 13, 2022 (156)
107	ClinVar	RCV000263723.5	Oct 13, 2022 (156)
108	ClinVar	RCV000465262.6	Oct 13, 2022 (156)
109	ClinVar	RCV000526310.12	Oct 13, 2022 (156)
110	ClinVar	RCV000588865.4	Oct 13, 2022 (156)
111	ClinVar	RCV000590468.5	Oct 13, 2022 (156)
112	ClinVar	RCV000617041.2	Oct 13, 2022 (156)
113	ClinVar	RCV000654792.4	Oct 13, 2022 (156)
114	ClinVar	RCV000704697.5	Apr 26, 2021 (155)
115	ClinVar	RCV000755402.10	Oct 13, 2022 (156)
116	ClinVar	RCV000865938.8	Oct 13, 2022 (156)
117	ClinVar	RCV001069917.4	Oct 13, 2022 (156)
118	ClinVar	RCV001326875.4	Oct 13, 2022 (156)
119	ClinVar	RCV001579589.5	Oct 13, 2022 (156)
120	ClinVar	RCV001704558.5	Oct 13, 2022 (156)
121	ClinVar	RCV001705391.2	Oct 13, 2022 (156)
122	ClinVar	RCV001719118.3	Oct 13, 2022 (156)
123	ClinVar	RCV001722085.5	Oct 13, 2022 (156)
124	ClinVar	RCV001926829.3	Oct 13, 2022 (156)
125	ClinVar	RCV002277299.1	Oct 13, 2022 (156)
126	ClinVar	RCV002277547.1	Oct 13, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs554578321	Feb 27, 2017 (136)
rs538831129	May 11, 2017 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4206439898, ss4829531692, ss5738816065	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCG	(self)
RCV001926829.3, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCG	(self)
ss4206439897	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCG	(self)
RCV000588865.4, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCG	(self)
ss3029675620, ss5194514245	NC_000009.11:101867537:GGCGGCGGCGG… NC_000009.11:101867537:GGCGGCGGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCG	(self)
ss3724409128, ss3966403911, ss4206439896, ss5281572628, ss5738816064	NC_000009.12:99105255:GGCGGCGGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCG	(self)
RCV001069917.4, RCV001719118.3, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCG	(self)
47053646, ss1368539259, ss1711915638, ss3005308431, ss3736722025, ss5194514244, ss5624186061, ss5829508048	NC_000009.11:101867537:GGCGGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG	(self)
ss5848726372	NC_000009.11:101867556:GCGGCGGCG:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG
ss4206439895, ss4829531691, ss5281572624, ss5477497472, ss5738816063	NC_000009.12:99105255:GGCGGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG	(self)
RCV000152000.19, RCV000203000.6, RCV000206714.15, RCV000263723.5, RCV000617041.2, RCV000755402.10, RCV002277299.1, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG	(self)
ss3724409127, ss3966403910	NC_000009.12:99105258:GGCGGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG	(self)
ss15356789	NT_008470.19:31032087:GGCGGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCG	(self)
ss5194514247	NC_000009.11:101867537:GGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG	(self)
ss4206439894	NC_000009.12:99105255:GGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG	(self)
RCV000246749.2, RCV000865938.8, RCV001705391.2, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG	(self)
ss3724409126	NC_000009.12:99105261:GGCGGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG	(self)
ss2136310601	NC_000009.12:99105277:GCGGCG:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCG	(self)
ss5829508049, ss5935996537	NC_000009.11:101867537:GGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss1368539263	NC_000009.11:101867543:GGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss5848726373	NC_000009.11:101867562:GCG:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG
ss4206439893, ss5141947439, ss5281572623, ss5477497473	NC_000009.12:99105255:GGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG	(self)
RCV000199722.11, RCV000246233.11, RCV001722085.5, RCV002277547.1, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss3724409125, ss3966403912	NC_000009.12:99105264:GGC:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss1960973297	NC_000009.12:99105280:GCG:	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss1711915639, ss5194514242	NC_000009.11:101867537::GGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss3812640040, ss4206439888, ss5281572626, ss5477497474, ss5738816062	NC_000009.12:99105255::GGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
RCV000195794.11, RCV000526310.12, RCV001579589.5, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss3966403909	NC_000009.12:99105267::GGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss1960973298	NC_000009.12:99105283::GCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss3736722026, ss5194514243	NC_000009.11:101867537::GGCGGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss4206439889, ss5281572627, ss5738816061	NC_000009.12:99105255::GGCGGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
RCV000590468.5, RCV000704697.5, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss5194514246	NC_000009.11:101867537::GGCGGCGGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss4206439890, ss5738816066	NC_000009.12:99105255::GGCGGCGGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
RCV000465262.6, RCV001704558.5, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss2137513621	NC_000009.12:99105283::GCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
RCV000654792.4, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss4206439891, ss5281572625	NC_000009.12:99105255::GGCGGCGGCGG… NC_000009.12:99105255::GGCGGCGGCGGCGGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
RCV001326875.4, 6138317673	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)
ss4206439892	NC_000009.12:99105255::GGCGGCGGCGG… NC_000009.12:99105255::GGCGGCGGCGGCGGCGGC	NC_000009.12:99105255:GGCGGCGGCGGC… NC_000009.12:99105255:GGCGGCGGCGGCGGCGGCGGCGGCGGCG:GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

20 citations for rs11466445

PMID	Title	Author	Year	Journal
12947057	TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies.	Kaklamani VG et al.	2003	Journal of clinical oncology
14966109	TGFBR1*6A and cancer: a meta-analysis of 12 case-control studies.	Pasche B et al.	2004	Journal of clinical oncology
15860866	TGFBR1*6A may contribute to hereditary colorectal cancer.	Bian Y et al.	2005	Journal of clinical oncology
17575241	Lack of an association between the TGFBR1*6A variant and colorectal cancer risk.	Skoglund J et al.	2007	Clinical cancer research
17848956	TGFBR1(*)6A and Int7G24A variants of transforming growth factor-beta receptor 1 in Swedish familial and sporadic breast cancer.	Song B et al.	2007	British journal of cancer
19004027	TGFB1 and TGFBR1 polymorphic variants in relationship to bladder cancer risk and prognosis.	Castillejo A et al.	2009	International journal of cancer
19538729	The TGFBR1*6A allele is not associated with susceptibility to colorectal cancer in a Spanish population: a case-control study.	Castillejo A et al.	2009	BMC cancer
20368424	Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition.	Carvajal-Carmona LG et al.	2010	Proceedings of the National Academy of Sciences of the United States of America
21515830	Genetic variations in the transforming growth factor-beta pathway as predictors of survival in advanced non-small cell lung cancer.	Lin M et al.	2011	Carcinogenesis
21811255	A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.	Abulí A et al.	2011	British journal of cancer
22292045	TGFBR1 intralocus epistatic interaction as a risk factor for colorectal cancer.	Martinez-Canto A et al.	2012	PloS one
22347533	Debate about TGFBR1 and the susceptibility to colorectal cancer.	Valle L et al.	2012	World journal of gastrointestinal oncology
22539603	Pathway analyses identify TGFBR2 as potential breast cancer susceptibility gene: results from a consortium study among Asians.	Ma X et al.	2012	Cancer epidemiology, biomarkers & prevention
23251617	Genetic variations in the transforming growth factor beta pathway as predictors of bladder cancer risk.	Wei H et al.	2012	PloS one
23946381	Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.	Ma X et al.	2014	Gut
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
24465802	Biomarkers of TGF-β signaling pathway and prognosis of pancreatic cancer.	Javle M et al.	2014	PloS one
24981199	Little evidence for association between the TGFBR1*6A variant and colorectal cancer: a family-based association study on non-syndromic family members from Australia and Spain.	Ross JP et al.	2014	BMC cancer
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
31435875	Inherited alterations of TGF beta signaling components in Appalachian cervical cancers.	Knobloch TJ et al.	2019	Cancer causes & control

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11466445