Name: rs3064744
Published: September 3, 2024
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.

rs3064744

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr2:233760234-233760248 (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: delTATA / delTA / dupTA / dupTATA …
delTATA / delTA / dupTA / dupTATA / dup(TA)₃ / dup(TA)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupTA=0.1684 (1542/9158, ALFA)
dupTA=0.3253 (1629/5008, 1000G)
dupTA=0.3454 (1537/4450, Estonian) (+ 3 more)
dupTA=0.299 (298/998, GoNL)
dupTA=0.089 (19/214, Vietnamese)
dupTA=0.30 (12/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: UGT1A10 : Intron Variant
UGT1A3 : Intron Variant
UGT1A4 : Intron Variant (+ 6 more)
UGT1A5 : Intron Variant
UGT1A6 : Intron Variant
UGT1A7 : Intron Variant
UGT1A8 : Intron Variant
UGT1A9 : Intron Variant
UGT1A1 : 2KB Upstream Variant
Publications: 9 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	9158	ATATATATATATATA=0.8299	ATATATATATATA=0.0017, ATATATATATATATATA=0.1684, ATATATATATATATATATA=0.0000, ATATATATATATATATATATA=0.0000, ATATATATATATATATATATATA=0.0000	0.722551	0.058733	0.218716	32
European	Sub	7920	ATATATATATATATA=0.8037	ATATATATATATA=0.0020, ATATATATATATATATA=0.1943, ATATATATATATATATATA=0.0000, ATATATATATATATATATATA=0.0000, ATATATATATATATATATATATA=0.0000	0.679767	0.067951	0.252282	32
African	Sub	604	ATATATATATATATA=1.000	ATATATATATATA=0.000, ATATATATATATATATA=0.000, ATATATATATATATATATA=0.000, ATATATATATATATATATATA=0.000, ATATATATATATATATATATATA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	ATATATATATATATA=1.00	ATATATATATATA=0.00, ATATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
African American	Sub	588	ATATATATATATATA=1.000	ATATATATATATA=0.000, ATATATATATATATATA=0.000, ATATATATATATATATATA=0.000, ATATATATATATATATATATA=0.000, ATATATATATATATATATATATA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	82	ATATATATATATATA=1.00	ATATATATATATA=0.00, ATATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	62	ATATATATATATATA=1.00	ATATATATATATA=0.00, ATATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	ATATATATATATATA=1.00	ATATATATATATA=0.00, ATATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	68	ATATATATATATATA=1.00	ATATATATATATA=0.00, ATATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	272	ATATATATATATATA=1.000	ATATATATATATA=0.000, ATATATATATATATATA=0.000, ATATATATATATATATATA=0.000, ATATATATATATATATATATA=0.000, ATATATATATATATATATATATA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	30	ATATATATATATATA=1.00	ATATATATATATA=0.00, ATATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
Other	Sub	182	ATATATATATATATA=0.984	ATATATATATATA=0.000, ATATATATATATATATA=0.016, ATATATATATATATATATA=0.000, ATATATATATATATATATATA=0.000, ATATATATATATATATATATATA=0.000	0.967033	0.0	0.032967	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	9158	(AT)₇A=0.8299	delTA=0.0017, dupTA=0.1684, dupTATA=0.0000, dup(TA)₃=0.0000, dup(TA)₄=0.0000
Allele Frequency Aggregator	European	Sub	7920	(AT)₇A=0.8037	delTA=0.0020, dupTA=0.1943, dupTATA=0.0000, dup(TA)₃=0.0000, dup(TA)₄=0.0000
Allele Frequency Aggregator	African	Sub	604	(AT)₇A=1.000	delTA=0.000, dupTA=0.000, dupTATA=0.000, dup(TA)₃=0.000, dup(TA)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	272	(AT)₇A=1.000	delTA=0.000, dupTA=0.000, dupTATA=0.000, dup(TA)₃=0.000, dup(TA)₄=0.000
Allele Frequency Aggregator	Other	Sub	182	(AT)₇A=0.984	delTA=0.000, dupTA=0.016, dupTATA=0.000, dup(TA)₃=0.000, dup(TA)₄=0.000
Allele Frequency Aggregator	Asian	Sub	82	(AT)₇A=1.00	delTA=0.00, dupTA=0.00, dupTATA=0.00, dup(TA)₃=0.00, dup(TA)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	68	(AT)₇A=1.00	delTA=0.00, dupTA=0.00, dupTATA=0.00, dup(TA)₃=0.00, dup(TA)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	30	(AT)₇A=1.00	delTA=0.00, dupTA=0.00, dupTATA=0.00, dup(TA)₃=0.00, dup(TA)₄=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupTA=0.3253
1000Genomes	African	Sub	1322	- No frequency provided	dupTA=0.4266
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupTA=0.1290
1000Genomes	Europe	Sub	1006	- No frequency provided	dupTA=0.2922
1000Genomes	South Asian	Sub	978	- No frequency provided	dupTA=0.399
1000Genomes	American	Sub	694	- No frequency provided	dupTA=0.362
Genetic variation in the Estonian population	Estonian	Study-wide	4450	- No frequency provided	dupTA=0.3454
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	- No frequency provided	dupTA=0.299
A Vietnamese Genetic Variation Database	Global	Study-wide	214	- No frequency provided	dupTA=0.089
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupTA=0.30

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 2	NC_000002.12:g.233760235TA[5]
GRCh38.p14 chr 2	NC_000002.12:g.233760235TA[6]
GRCh38.p14 chr 2	NC_000002.12:g.233760235TA[8]
GRCh38.p14 chr 2	NC_000002.12:g.233760235TA[9]
GRCh38.p14 chr 2	NC_000002.12:g.233760235TA[10]
GRCh38.p14 chr 2	NC_000002.12:g.233760235TA[11]
GRCh37.p13 chr 2	NC_000002.11:g.234668881TA[5]
GRCh37.p13 chr 2	NC_000002.11:g.234668881TA[6]
GRCh37.p13 chr 2	NC_000002.11:g.234668881TA[8]
GRCh37.p13 chr 2	NC_000002.11:g.234668881TA[9]
GRCh37.p13 chr 2	NC_000002.11:g.234668881TA[10]
GRCh37.p13 chr 2	NC_000002.11:g.234668881TA[11]
UGT1A RefSeqGene	NG_002601.2:g.175492TA[5]
UGT1A RefSeqGene	NG_002601.2:g.175492TA[6]
UGT1A RefSeqGene	NG_002601.2:g.175492TA[8]
UGT1A RefSeqGene	NG_002601.2:g.175492TA[9]
UGT1A RefSeqGene	NG_002601.2:g.175492TA[10]
UGT1A RefSeqGene	NG_002601.2:g.175492TA[11]
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.4963TA[5]
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.4963TA[6]
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.4963TA[8]
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.4963TA[9]
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.4963TA[10]
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.4963TA[11]

Gene: UGT1A6, UDP glucuronosyltransferase family 1 member A6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A6 transcript variant 1	NM_001072.4:c.862-6800AT[… NM_001072.4:c.862-6800AT[5]	N/A	Intron Variant
UGT1A6 transcript variant 2	NM_205862.3:c.61-6800AT[5]	N/A	Intron Variant

Gene: UGT1A4, UDP glucuronosyltransferase family 1 member A4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A4 transcript	NM_007120.3:c.868-6800AT[… NM_007120.3:c.868-6800AT[5]	N/A	Intron Variant

Gene: UGT1A10, UDP glucuronosyltransferase family 1 member A10 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A10 transcript	NM_019075.4:c.856-6800AT[… NM_019075.4:c.856-6800AT[5]	N/A	Intron Variant

Gene: UGT1A8, UDP glucuronosyltransferase family 1 member A8 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A8 transcript	NM_019076.5:c.856-6800AT[… NM_019076.5:c.856-6800AT[5]	N/A	Intron Variant

Gene: UGT1A7, UDP glucuronosyltransferase family 1 member A7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A7 transcript	NM_019077.3:c.856-6800AT[… NM_019077.3:c.856-6800AT[5]	N/A	Intron Variant

Gene: UGT1A5, UDP glucuronosyltransferase family 1 member A5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A5 transcript	NM_019078.2:c.868-6800AT[… NM_019078.2:c.868-6800AT[5]	N/A	Intron Variant

Gene: UGT1A3, UDP glucuronosyltransferase family 1 member A3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A3 transcript	NM_019093.4:c.868-6800AT[… NM_019093.4:c.868-6800AT[5]	N/A	Intron Variant

Gene: UGT1A9, UDP glucuronosyltransferase family 1 member A9 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A9 transcript	NM_021027.3:c.856-6800AT[… NM_021027.3:c.856-6800AT[5]	N/A	Intron Variant

Gene: UGT1A1, UDP glucuronosyltransferase family 1 member A1 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A1 transcript	NM_000463.3:c.	N/A	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: delTA (allele ID: 540563 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000664406.11	Irinotecan response	Drug-Response
RCV001515198.21	not provided	Benign
RCV003965423.1	UGT1A9-related disorder	Benign

Allele: dupTA (allele ID: 27314 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000013064.50	Gilbert syndrome	Conflicting-Interpretations-Of-Pathogenicity
RCV000013065.36	Crigler-Najjar syndrome, type II	Likely-Pathogenic
RCV000022808.34	Lucey-Driscoll syndrome	Pathogenic
RCV000022809.13	Bilirubin, serum level of, quantitative trait locus 1	Association
RCV000249621.17	not specified	Conflicting-Interpretations-Of-Pathogenicity
RCV000664404.10	Irinotecan response	Drug-Response
RCV001093257.41	not provided	Conflicting-Interpretations-Of-Pathogenicity,Other
RCV001269334.13	Bilirubin, serum level of, quantitative trait locus 1,Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome, type II,Gilbert syndrome,Lucey-Driscoll syndrome	No-Classifications-From-Unflagged-Records

Allele: dupTATA (allele ID: 540562 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000664405.11	Irinotecan response	Drug-Response
RCV001508486.25	not provided	Conflicting-Interpretations-Of-Pathogenicity
RCV003892146.1	UGT1A9-related disorder	Uncertain-Significance

Allele: dup(TA)₃ (allele ID: 1979758 )

ClinVar Accession	Disease Names	Clinical Significance
RCV002617932.2	not provided	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	(AT)₇A=	delTATA	delTA	dupTA	dupTATA	dup(TA)₃	dup(TA)₄
GRCh38.p14 chr 2	NC_000002.12:g.233760234_233760248=	NC_000002.12:g.233760235TA[5]	NC_000002.12:g.233760235TA[6]	NC_000002.12:g.233760235TA[8]	NC_000002.12:g.233760235TA[9]	NC_000002.12:g.233760235TA[10]	NC_000002.12:g.233760235TA[11]
GRCh37.p13 chr 2	NC_000002.11:g.234668880_234668894=	NC_000002.11:g.234668881TA[5]	NC_000002.11:g.234668881TA[6]	NC_000002.11:g.234668881TA[8]	NC_000002.11:g.234668881TA[9]	NC_000002.11:g.234668881TA[10]	NC_000002.11:g.234668881TA[11]
UGT1A RefSeqGene	NG_002601.2:g.175491_175505=	NG_002601.2:g.175492TA[5]	NG_002601.2:g.175492TA[6]	NG_002601.2:g.175492TA[8]	NG_002601.2:g.175492TA[9]	NG_002601.2:g.175492TA[10]	NG_002601.2:g.175492TA[11]
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.4962_4976=	NG_033238.1:g.4963TA[5]	NG_033238.1:g.4963TA[6]	NG_033238.1:g.4963TA[8]	NG_033238.1:g.4963TA[9]	NG_033238.1:g.4963TA[10]	NG_033238.1:g.4963TA[11]
UGT1A6 transcript variant 1	NM_001072.3:c.862-6800=	NM_001072.3:c.862-6800AT[5]	NM_001072.3:c.862-6800AT[6]	NM_001072.3:c.862-6800AT[8]	NM_001072.3:c.862-6800AT[9]	NM_001072.3:c.862-6800AT[10]	NM_001072.3:c.862-6800AT[11]
UGT1A6 transcript variant 1	NM_001072.4:c.862-6800=	NM_001072.4:c.862-6800AT[5]	NM_001072.4:c.862-6800AT[6]	NM_001072.4:c.862-6800AT[8]	NM_001072.4:c.862-6800AT[9]	NM_001072.4:c.862-6800AT[10]	NM_001072.4:c.862-6800AT[11]
UGT1A4 transcript	NM_007120.2:c.868-6800=	NM_007120.2:c.868-6800AT[5]	NM_007120.2:c.868-6800AT[6]	NM_007120.2:c.868-6800AT[8]	NM_007120.2:c.868-6800AT[9]	NM_007120.2:c.868-6800AT[10]	NM_007120.2:c.868-6800AT[11]
UGT1A4 transcript	NM_007120.3:c.868-6800=	NM_007120.3:c.868-6800AT[5]	NM_007120.3:c.868-6800AT[6]	NM_007120.3:c.868-6800AT[8]	NM_007120.3:c.868-6800AT[9]	NM_007120.3:c.868-6800AT[10]	NM_007120.3:c.868-6800AT[11]
UGT1A10 transcript	NM_019075.2:c.856-6800=	NM_019075.2:c.856-6800AT[5]	NM_019075.2:c.856-6800AT[6]	NM_019075.2:c.856-6800AT[8]	NM_019075.2:c.856-6800AT[9]	NM_019075.2:c.856-6800AT[10]	NM_019075.2:c.856-6800AT[11]
UGT1A10 transcript	NM_019075.4:c.856-6800=	NM_019075.4:c.856-6800AT[5]	NM_019075.4:c.856-6800AT[6]	NM_019075.4:c.856-6800AT[8]	NM_019075.4:c.856-6800AT[9]	NM_019075.4:c.856-6800AT[10]	NM_019075.4:c.856-6800AT[11]
UGT1A8 transcript	NM_019076.4:c.856-6800=	NM_019076.4:c.856-6800AT[5]	NM_019076.4:c.856-6800AT[6]	NM_019076.4:c.856-6800AT[8]	NM_019076.4:c.856-6800AT[9]	NM_019076.4:c.856-6800AT[10]	NM_019076.4:c.856-6800AT[11]
UGT1A8 transcript	NM_019076.5:c.856-6800=	NM_019076.5:c.856-6800AT[5]	NM_019076.5:c.856-6800AT[6]	NM_019076.5:c.856-6800AT[8]	NM_019076.5:c.856-6800AT[9]	NM_019076.5:c.856-6800AT[10]	NM_019076.5:c.856-6800AT[11]
UGT1A7 transcript	NM_019077.2:c.856-6800=	NM_019077.2:c.856-6800AT[5]	NM_019077.2:c.856-6800AT[6]	NM_019077.2:c.856-6800AT[8]	NM_019077.2:c.856-6800AT[9]	NM_019077.2:c.856-6800AT[10]	NM_019077.2:c.856-6800AT[11]
UGT1A7 transcript	NM_019077.3:c.856-6800=	NM_019077.3:c.856-6800AT[5]	NM_019077.3:c.856-6800AT[6]	NM_019077.3:c.856-6800AT[8]	NM_019077.3:c.856-6800AT[9]	NM_019077.3:c.856-6800AT[10]	NM_019077.3:c.856-6800AT[11]
UGT1A5 transcript	NM_019078.1:c.868-6800=	NM_019078.1:c.868-6800AT[5]	NM_019078.1:c.868-6800AT[6]	NM_019078.1:c.868-6800AT[8]	NM_019078.1:c.868-6800AT[9]	NM_019078.1:c.868-6800AT[10]	NM_019078.1:c.868-6800AT[11]
UGT1A5 transcript	NM_019078.2:c.868-6800=	NM_019078.2:c.868-6800AT[5]	NM_019078.2:c.868-6800AT[6]	NM_019078.2:c.868-6800AT[8]	NM_019078.2:c.868-6800AT[9]	NM_019078.2:c.868-6800AT[10]	NM_019078.2:c.868-6800AT[11]
UGT1A3 transcript	NM_019093.2:c.868-6800=	NM_019093.2:c.868-6800AT[5]	NM_019093.2:c.868-6800AT[6]	NM_019093.2:c.868-6800AT[8]	NM_019093.2:c.868-6800AT[9]	NM_019093.2:c.868-6800AT[10]	NM_019093.2:c.868-6800AT[11]
UGT1A3 transcript	NM_019093.4:c.868-6800=	NM_019093.4:c.868-6800AT[5]	NM_019093.4:c.868-6800AT[6]	NM_019093.4:c.868-6800AT[8]	NM_019093.4:c.868-6800AT[9]	NM_019093.4:c.868-6800AT[10]	NM_019093.4:c.868-6800AT[11]
UGT1A9 transcript	NM_021027.2:c.856-6800=	NM_021027.2:c.856-6800AT[5]	NM_021027.2:c.856-6800AT[6]	NM_021027.2:c.856-6800AT[8]	NM_021027.2:c.856-6800AT[9]	NM_021027.2:c.856-6800AT[10]	NM_021027.2:c.856-6800AT[11]
UGT1A9 transcript	NM_021027.3:c.856-6800=	NM_021027.3:c.856-6800AT[5]	NM_021027.3:c.856-6800AT[6]	NM_021027.3:c.856-6800AT[8]	NM_021027.3:c.856-6800AT[9]	NM_021027.3:c.856-6800AT[10]	NM_021027.3:c.856-6800AT[11]
UGT1A6 transcript variant 2	NM_205862.1:c.61-6800=	NM_205862.1:c.61-6800AT[5]	NM_205862.1:c.61-6800AT[6]	NM_205862.1:c.61-6800AT[8]	NM_205862.1:c.61-6800AT[9]	NM_205862.1:c.61-6800AT[10]	NM_205862.1:c.61-6800AT[11]
UGT1A6 transcript variant 2	NM_205862.3:c.61-6800=	NM_205862.3:c.61-6800AT[5]	NM_205862.3:c.61-6800AT[6]	NM_205862.3:c.61-6800AT[8]	NM_205862.3:c.61-6800AT[9]	NM_205862.3:c.61-6800AT[10]	NM_205862.3:c.61-6800AT[11]

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#.

100 SubSNP, 30 Frequency, 15 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4296081	Dec 03, 2013 (136)
2	ABI	ss41829773	Mar 14, 2006 (126)
3	EGP_SNPS	ss50393215	Mar 14, 2006 (138)
4	STEJUSTINE-REGGEN	ss51854789	Dec 03, 2013 (136)
5	PHARMGKB_PAAR-UCHI	ss69367662	Dec 03, 2013 (136)
6	PHARMGKB_PAAR-UCHI	ss69369242	May 17, 2007 (127)
7	PHARMGKB_PAAR-UCHI	ss69369603	Dec 04, 2013 (136)
8	PHARMGKB_PAAR-SJCRH	ss69370964	Dec 04, 2013 (136)
9	PHARMGKB_PAAR-SJCRH	ss69370965	Dec 04, 2013 (136)
10	HGSV	ss79921406	Dec 14, 2007 (129)
11	HGSV	ss81972872	Dec 04, 2013 (136)
12	HGSV	ss82636620	Dec 04, 2013 (136)
13	HGSV	ss82746423	Dec 05, 2013 (136)
14	CNG	ss98338941	Feb 02, 2009 (130)
15	CNG	ss98340554	Dec 05, 2013 (144)
16	DEVINE_LAB	ss100550557	Mar 15, 2016 (147)
17	DEVINE_LAB	ss101216336	Mar 15, 2016 (147)
18	BUSHMAN	ss193595958	Jul 04, 2010 (132)
19	GMI	ss288304853	May 04, 2012 (137)
20	1000GENOMES	ss326321806	May 09, 2011 (135)
21	1000GENOMES	ss326343685	May 09, 2011 (135)
22	1000GENOMES	ss326443292	May 09, 2011 (135)
23	LUNTER	ss551192779	Apr 25, 2013 (138)
24	LUNTER	ss551264776	Apr 25, 2013 (138)
25	LUNTER	ss552987669	Apr 25, 2013 (138)
26	SSMP	ss663292947	Apr 01, 2015 (144)
27	EVA-GONL	ss978088578	Aug 21, 2014 (142)
28	1000GENOMES	ss1369748833	Aug 21, 2014 (142)
29	OMIM-CURATED-RECORDS	ss1505810908	Dec 08, 2014 (142)
30	DDI	ss1536335984	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1575644651	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1703453979	Jan 10, 2018 (151)
33	EVA_UK10K_TWINSUK	ss1703454021	Jan 10, 2018 (151)
34	EVA_UK10K_TWINSUK	ss1710060195	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1710060196	Apr 01, 2015 (144)
36	HAMMER_LAB	ss1798566763	Jan 10, 2018 (151)
37	JJLAB	ss2030486416	Sep 14, 2016 (149)
38	SWEGEN	ss2991558426	Jan 10, 2018 (151)
39	CSIRBIOHTS	ss3029637312	Jan 10, 2018 (151)
40	CSIRBIOHTS	ss3029637313	Nov 08, 2017 (151)
41	CSIRBIOHTS	ss3029637314	Nov 08, 2017 (151)
42	CSIRBIOHTS	ss3029637315	Nov 08, 2017 (151)
43	MCHAISSO	ss3065800179	Nov 08, 2017 (151)
44	URBANLAB	ss3647302825	Oct 11, 2018 (152)
45	EGCUT_WGS	ss3659455949	Jul 13, 2019 (153)
46	EVA_DECODE	ss3706266233	Jul 13, 2019 (153)
47	EVA_DECODE	ss3706266234	Jul 13, 2019 (153)
48	EVA_DECODE	ss3706266235	Jul 13, 2019 (153)
49	ACPOP	ss3729481017	Jul 13, 2019 (153)
50	ACPOP	ss3729481018	Jul 13, 2019 (153)
51	KHV_HUMAN_GENOMES	ss3802597185	Jul 13, 2019 (153)
52	EVA	ss3827569843	Apr 25, 2020 (154)
53	EVA	ss3837205321	Apr 25, 2020 (154)
54	EVA	ss3842627996	Apr 25, 2020 (154)
55	KOGIC	ss3950335497	Apr 25, 2020 (154)
56	KOGIC	ss3950335498	Apr 25, 2020 (154)
57	KOGIC	ss3950335499	Apr 25, 2020 (154)
58	FSA-LAB	ss3984206826	Apr 26, 2021 (155)
59	FSA-LAB	ss3984206827	Apr 26, 2021 (155)
60	TOMMO_GENOMICS	ss6019041134	Oct 30, 2024 (157)
61	TOMMO_GENOMICS	ss6019041135	Oct 30, 2024 (157)
62	EVA	ss6323673395	Oct 30, 2024 (157)
63	YEGNASUBRAMANIAN_LAB	ss6336182599	Oct 30, 2024 (157)
64	EVA	ss6350017624	Oct 30, 2024 (157)
65	KOGIC	ss6358689868	Oct 30, 2024 (157)
66	KOGIC	ss6358689869	Oct 30, 2024 (157)
67	KOGIC	ss6358689870	Oct 30, 2024 (157)
68	GNOMAD	ss6416214361	Oct 30, 2024 (157)
69	GNOMAD	ss6416214362	Oct 30, 2024 (157)
70	GNOMAD	ss6416214363	Oct 30, 2024 (157)
71	GNOMAD	ss6416214365	Oct 30, 2024 (157)
72	GNOMAD	ss6416214366	Oct 30, 2024 (157)
73	GNOMAD	ss6574549891	Oct 30, 2024 (157)
74	GNOMAD	ss6574549892	Oct 30, 2024 (157)
75	GNOMAD	ss6574549893	Oct 30, 2024 (157)
76	GNOMAD	ss6574549894	Oct 30, 2024 (157)
77	GNOMAD	ss6574549895	Oct 30, 2024 (157)
78	TOMMO_GENOMICS	ss8157056109	Oct 30, 2024 (157)
79	TOMMO_GENOMICS	ss8157056110	Oct 30, 2024 (157)
80	1000G_HIGH_COVERAGE	ss8252463050	Oct 30, 2024 (157)
81	1000G_HIGH_COVERAGE	ss8252463051	Oct 30, 2024 (157)
82	1000G_HIGH_COVERAGE	ss8252463052	Oct 30, 2024 (157)
83	HUGCELL_USP	ss8452030963	Oct 30, 2024 (157)
84	HUGCELL_USP	ss8452030964	Oct 30, 2024 (157)
85	HUGCELL_USP	ss8452030965	Oct 30, 2024 (157)
86	EVA	ss8623924118	Oct 30, 2024 (157)
87	EVA	ss8624109676	Oct 30, 2024 (157)
88	TOMMO_GENOMICS	ss8688107879	Oct 30, 2024 (157)
89	TOMMO_GENOMICS	ss8688107880	Oct 30, 2024 (157)
90	EVA	ss8800050273	Oct 30, 2024 (157)
91	EVA	ss8800102969	Oct 30, 2024 (157)
92	YY_MCH	ss8803328107	Oct 30, 2024 (157)
93	EVA	ss8821760179	Oct 30, 2024 (157)
94	EVA	ss8821760180	Oct 30, 2024 (157)
95	EVA	ss8821760181	Oct 30, 2024 (157)
96	EVA	ss8848538728	Oct 30, 2024 (157)
97	EVA	ss8848538729	Oct 30, 2024 (157)
98	EVA	ss8853001640	Oct 30, 2024 (157)
99	EVA	ss8935625526	Oct 30, 2024 (157)
100	EVA	ss8980120103	Oct 30, 2024 (157)
101	1000Genomes	NC_000002.11 - 234668880	Oct 11, 2018 (152)
102	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 7342917 (NC_000002.11:234668879::AT 1214/3854) Row 7342918 (NC_000002.11:234668879:AT: 46/3854)	-	Oct 11, 2018 (152)
103	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 7342917 (NC_000002.11:234668879::AT 1214/3854) Row 7342918 (NC_000002.11:234668879:AT: 46/3854)	-	Oct 11, 2018 (152)
104	Genetic variation in the Estonian population	NC_000002.11 - 234668880	Oct 11, 2018 (152)
105	The Danish reference pan genome	NC_000002.11 - 234668880	Apr 25, 2020 (154)
106	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 11517296 (NC_000002.12:233760233::AT 379364/1261090) Row 11517297 (NC_000002.12:233760233::ATAT 3144/1276382) Row 11517298 (NC_000002.12:233760233::ATATAT 9/1302916)...	-	Oct 30, 2024 (157)
107	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 11517296 (NC_000002.12:233760233::AT 379364/1261090) Row 11517297 (NC_000002.12:233760233::ATAT 3144/1276382) Row 11517298 (NC_000002.12:233760233::ATATAT 9/1302916)...	-	Oct 30, 2024 (157)
108	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 11517296 (NC_000002.12:233760233::AT 379364/1261090) Row 11517297 (NC_000002.12:233760233::ATAT 3144/1276382) Row 11517298 (NC_000002.12:233760233::ATATAT 9/1302916)...	-	Oct 30, 2024 (157)
109	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 11517296 (NC_000002.12:233760233::AT 379364/1261090) Row 11517297 (NC_000002.12:233760233::ATAT 3144/1276382) Row 11517298 (NC_000002.12:233760233::ATATAT 9/1302916)...	-	Oct 30, 2024 (157)
110	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 11517296 (NC_000002.12:233760233::AT 379364/1261090) Row 11517297 (NC_000002.12:233760233::ATAT 3144/1276382) Row 11517298 (NC_000002.12:233760233::ATATAT 9/1302916)...	-	Oct 30, 2024 (157)
111	gnomAD v4 - Genomes Submission ignored due to conflicting rows: Row 101028920 (NC_000002.12:233760233::AT 51248/148158) Row 101028921 (NC_000002.12:233760233::ATAT 2209/148206) Row 101028922 (NC_000002.12:233760233::ATATAT 8/148146)...	-	Oct 30, 2024 (157)
112	gnomAD v4 - Genomes Submission ignored due to conflicting rows: Row 101028920 (NC_000002.12:233760233::AT 51248/148158) Row 101028921 (NC_000002.12:233760233::ATAT 2209/148206) Row 101028922 (NC_000002.12:233760233::ATATAT 8/148146)...	-	Oct 30, 2024 (157)
113	gnomAD v4 - Genomes Submission ignored due to conflicting rows: Row 101028920 (NC_000002.12:233760233::AT 51248/148158) Row 101028921 (NC_000002.12:233760233::ATAT 2209/148206) Row 101028922 (NC_000002.12:233760233::ATATAT 8/148146)...	-	Oct 30, 2024 (157)
114	gnomAD v4 - Genomes Submission ignored due to conflicting rows: Row 101028920 (NC_000002.12:233760233::AT 51248/148158) Row 101028921 (NC_000002.12:233760233::ATAT 2209/148206) Row 101028922 (NC_000002.12:233760233::ATATAT 8/148146)...	-	Oct 30, 2024 (157)
115	gnomAD v4 - Genomes Submission ignored due to conflicting rows: Row 101028920 (NC_000002.12:233760233::AT 51248/148158) Row 101028921 (NC_000002.12:233760233::ATAT 2209/148206) Row 101028922 (NC_000002.12:233760233::ATATAT 8/148146)...	-	Oct 30, 2024 (157)
116	Genome of the Netherlands Release 5	NC_000002.11 - 234668880	Apr 25, 2020 (154)
117	Korean Genome Project Submission ignored due to conflicting rows: Row 6713498 (NC_000002.12:233760235::AT 238/1832) Row 6713499 (NC_000002.12:233760233:AT: 9/1832) Row 6713500 (NC_000002.12:233760235::ATAT 4/1832)	-	Apr 25, 2020 (154)
118	Korean Genome Project Submission ignored due to conflicting rows: Row 6713498 (NC_000002.12:233760235::AT 238/1832) Row 6713499 (NC_000002.12:233760233:AT: 9/1832) Row 6713500 (NC_000002.12:233760235::ATAT 4/1832)	-	Apr 25, 2020 (154)
119	Korean Genome Project Submission ignored due to conflicting rows: Row 6713498 (NC_000002.12:233760235::AT 238/1832) Row 6713499 (NC_000002.12:233760233:AT: 9/1832) Row 6713500 (NC_000002.12:233760235::ATAT 4/1832)	-	Apr 25, 2020 (154)
120	Korean Genome Project 4K Submission ignored due to conflicting rows: Row 8541766 (NC_000002.12:233760235::AT 927/7234) Row 8541767 (NC_000002.12:233760233:AT: 70/7234) Row 8541768 (NC_000002.12:233760235::ATAT 12/7234)	-	Oct 30, 2024 (157)
121	Korean Genome Project 4K Submission ignored due to conflicting rows: Row 8541766 (NC_000002.12:233760235::AT 927/7234) Row 8541767 (NC_000002.12:233760233:AT: 70/7234) Row 8541768 (NC_000002.12:233760235::ATAT 12/7234)	-	Oct 30, 2024 (157)
122	Korean Genome Project 4K Submission ignored due to conflicting rows: Row 8541766 (NC_000002.12:233760235::AT 927/7234) Row 8541767 (NC_000002.12:233760233:AT: 70/7234) Row 8541768 (NC_000002.12:233760235::ATAT 12/7234)	-	Oct 30, 2024 (157)
123	Northern Sweden Submission ignored due to conflicting rows: Row 2765882 (NC_000002.11:234668879::AT 193/600) Row 2765883 (NC_000002.11:234668879:AT: 1/600)	-	Jul 13, 2019 (153)
124	Northern Sweden Submission ignored due to conflicting rows: Row 2765882 (NC_000002.11:234668879::AT 193/600) Row 2765883 (NC_000002.11:234668879:AT: 1/600)	-	Jul 13, 2019 (153)
125	38KJPN Submission ignored due to conflicting rows: Row 36416954 (NC_000002.12:233760233::AT 8739/77442) Row 36416955 (NC_000002.12:233760233::ATAT 19/77442)	-	Oct 30, 2024 (157)
126	38KJPN Submission ignored due to conflicting rows: Row 36416954 (NC_000002.12:233760233::AT 8739/77442) Row 36416955 (NC_000002.12:233760233::ATAT 19/77442)	-	Oct 30, 2024 (157)
127	UK 10K study - Twins Submission ignored due to conflicting rows: Row 7342917 (NC_000002.11:234668879::AT 1128/3708) Row 7342918 (NC_000002.11:234668879:AT: 48/3708)	-	Oct 11, 2018 (152)
128	UK 10K study - Twins Submission ignored due to conflicting rows: Row 7342917 (NC_000002.11:234668879::AT 1128/3708) Row 7342918 (NC_000002.11:234668879:AT: 48/3708)	-	Oct 11, 2018 (152)
129	A Vietnamese Genetic Variation Database	NC_000002.11 - 234668880	Jul 13, 2019 (153)
130	ALFA	NC_000002.12 - 233760234	Oct 30, 2024 (157)
131	ClinVar	RCV000013064.50	Oct 30, 2024 (157)
132	ClinVar	RCV000013065.36	Oct 30, 2024 (157)
133	ClinVar	RCV000022808.34	Oct 30, 2024 (157)
134	ClinVar	RCV000022809.13	Oct 30, 2024 (157)
135	ClinVar	RCV000249621.17	Oct 30, 2024 (157)
136	ClinVar	RCV000664404.10	Oct 30, 2024 (157)
137	ClinVar	RCV000664405.11	Oct 30, 2024 (157)
138	ClinVar	RCV000664406.11	Oct 30, 2024 (157)
139	ClinVar	RCV001093257.41	Oct 30, 2024 (157)
140	ClinVar	RCV001269334.13	Oct 30, 2024 (157)
141	ClinVar	RCV001508486.25	Oct 30, 2024 (157)
142	ClinVar	RCV001515198.21	Oct 30, 2024 (157)
143	ClinVar	RCV002617932.2	Oct 30, 2024 (157)
144	ClinVar	RCV003892146.1	Oct 30, 2024 (157)
145	ClinVar	RCV003965423.1	Oct 30, 2024 (157)

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)
rs143939460	Sep 17, 2011 (135)
rs34815109	May 15, 2013 (138)
rs35600288	Apr 25, 2013 (138)
rs36208044	Oct 25, 2006 (127)
rs59064535	May 25, 2008 (130)
rs67574270	May 11, 2012 (137)
rs67574271	Feb 27, 2009 (130)
rs67574272	Feb 27, 2009 (130)
rs67574273	Feb 27, 2009 (130)
rs67574274	Feb 27, 2009 (130)
rs67574275	Feb 27, 2009 (130)
rs67946806	May 11, 2012 (137)
rs67946807	Feb 27, 2009 (130)
rs72310212	May 11, 2012 (137)
rs72538037	May 11, 2012 (137)
rs138944467	May 04, 2012 (137)
rs398048306	Apr 01, 2015 (144)
rs796515945	Nov 08, 2017 (151)
rs397723790	Feb 13, 2015 (136)
rs45557732	Mar 05, 2008 (129)
rs397742477	Aug 25, 2014 (136)
rs67162141	May 11, 2012 (137)
rs67162146	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss6416214366	NC_000002.12:233760233:ATAT:	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATA
ss69369242, ss69369603, ss69370964, ss69370965	NT_005120.16:615139:TATATATATATATA… NT_005120.16:615139:TATATATATATATA:TATATATATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATA	(self)
ss79921406	NC_000002.9:234450892:TA:	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
ss1703453979, ss1703454021, ss1798566763, ss2991558426, ss3029637312, ss3729481018, ss8821760181	NC_000002.11:234668879:AT:	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
ss3029637315	NC_000002.11:234668892:TA:	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
ss3706266235, ss3950335498, ss6358689869, ss6416214365, ss6574549895, ss8252463051, ss8452030964	NC_000002.12:233760233:AT:	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
RCV000664406.11, RCV001515198.21, RCV003965423.1, 12390930994	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
ss98340554	NT_005120.16:615138:AT:	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
ss69367662, ss69369242, ss69369603, ss69370964, ss69370965	NT_005120.16:615139:TATATATATATATA… NT_005120.16:615139:TATATATATATATA:TATATATATATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
ss100550557	NT_005120.16:615141:TA:	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
ss101216336	NT_005120.16:615151:TA:	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA	(self)
ss326321806, ss326343685, ss326443292, ss551192779, ss551264776, ss552987669	NC_000002.10:234333618::AT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss288304853	NC_000002.10:234333633::TA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
13257643, 5194197, 740876, 3217067, 1594074, ss663292947, ss978088578, ss1369748833, ss1536335984, ss1575644651, ss2030486416, ss3029637313, ss3659455949, ss3729481017, ss3827569843, ss3837205321, ss3984206826, ss6323673395, ss6336182599, ss6350017624, ss8157056109, ss8623924118, ss8624109676, ss8800050273, ss8800102969, ss8821760179, ss8980120103	NC_000002.11:234668879::AT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss1710060195, ss1710060196	NC_000002.11:234668881::AT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss3984206827, ss8848538728	NC_000002.11:234668894::TA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss3647302825, ss3802597185, ss3842627996, ss6019041134, ss6416214361, ss6574549891, ss8252463050, ss8452030963, ss8688107879, ss8803328107, ss8853001640	NC_000002.12:233760233::AT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
RCV000013064.50, RCV000013065.36, RCV000022808.34, RCV000022809.13, RCV000249621.17, RCV000664404.10, RCV001093257.41, RCV001269334.13, 12390930994	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss3706266234, ss3950335497, ss6358689868	NC_000002.12:233760235::AT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss1505810908	NC_000002.12:233760248::TA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss41829773, ss98338941	NT_005120.16:615138::AT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss50393215	NT_005120.16:615139::TA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss69367662, ss69369242, ss69369603, ss69370964, ss69370965	NT_005120.16:615139:TATATATATATATA… NT_005120.16:615139:TATATATATATATA:TATATATATATATATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss4296081, ss51854789, ss81972872, ss82636620, ss82746423	NT_005120.16:615153::TA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss193595958	NT_005403.18:139264218::AT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA	(self)
ss3029637314, ss8157056110, ss8821760180	NC_000002.11:234668879::ATAT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATA	(self)
ss8848538729	NC_000002.11:234668894::TATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATA	(self)
ss3065800179, ss6019041135, ss6416214362, ss6574549892, ss8252463052, ss8452030965, ss8688107880	NC_000002.12:233760233::ATAT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATA	(self)
RCV000664405.11, RCV001508486.25, RCV003892146.1, 12390930994	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATA	(self)
ss3706266233, ss3950335499, ss6358689870	NC_000002.12:233760235::ATAT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATA	(self)
ss6416214363, ss6574549893	NC_000002.12:233760233::ATATAT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATA	(self)
RCV002617932.2, 12390930994	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATA	(self)
ss8935625526	NC_000002.11:234668879::ATATATAT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATATA	(self)
ss6574549894	NC_000002.12:233760233::ATATATAT	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATATA	(self)
12390930994	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATATA	NC_000002.12:233760233:ATATATATATA… NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATATA	(self)

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

9 citations for rs3064744

PMID	Title	Author	Year	Journal
21513526	UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach.	Hanchard NA et al.	2011	BMC medical genetics
22888291	Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han.	Zhang X et al.	2012	Genetics and molecular biology
26369774	Impact of New Genomic Technologies on Understanding Adverse Drug Reactions.	Maggo SD et al.	2016	Clinical pharmacokinetics
29220881	The UGT1A1*28 gene variant predicts long-term mortality in patients undergoing coronary angiography.	Zulus B et al.	2018	Clinical chemistry and laboratory medicine
32019188	Comparison of Eight Technologies to Determine Genotype at the UGT1A1 (TA)(n) Repeat Polymorphism: Potential Clinical Consequences of Genotyping Errors?	Sissung TM et al.	2020	International journal of molecular sciences
32326111	Role of Genetic Variations in the Hepatic Handling of Drugs.	Marin JJG et al.	2020	International journal of molecular sciences
34462452	The importance of the UGT1A1 variants in the development of osteopenia and osteoporosis in postmenopausal women.	Bogacz A et al.	2021	Scientific reports
34462758	Gene-environment interaction analysis incorporating sex, cardiometabolic diseases, and multiple deprivation index reveals novel genetic associations with COVID-19 severity.	Westerman KE et al.	2021	medRxiv
38488402	Diversity of oncopharmacogenetic profile within Spanish population.	Ferrer Bolufer I et al.	2024	Pharmacogenetics and genomics

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3064744