Name: rs3051702
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.

rs3051702

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:62112984-62112985 (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: delTG
Variation Type: Deletion
Frequency: delTG=0.080400 (21281/264690, TOPMED)
delTG=0.081369 (11389/139968, GnomAD)
delTG=0.11547 (3263/28258, 14KJPN) (+ 12 more)
delTG=0.11617 (1947/16760, 8.3KJPN)
delTG=0.09625 (1572/16332, ALFA)
delTG=0.0901 (577/6404, 1000G_30x)
delTG=0.0929 (465/5008, 1000G)
delTG=0.1125 (504/4480, Estonian)
delTG=0.1012 (390/3854, ALSPAC)
delTG=0.1071 (397/3708, TWINSUK)
delTG=0.1141 (209/1832, Korea1K)
delTG=0.094 (94/998, GoNL)
delTG=0.073 (44/600, NorthernSweden)
delTG=0.070 (15/214, Vietnamese)
delTG=0.17 (7/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: PIGN : Intron Variant
Publications: 0 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	16332	TG=0.90375	=0.09625	0.817046	0.009552	0.173402	0
European	Sub	12080	TG=0.88593	=0.11407	0.783278	0.011424	0.205298	1
African	Sub	2816	TG=0.9794	=0.0206	0.958807	0.0	0.041193	0
African Others	Sub	108	TG=0.991	=0.009	0.981481	0.0	0.018519	0
African American	Sub	2708	TG=0.9790	=0.0210	0.957903	0.0	0.042097	0
Asian	Sub	108	TG=0.833	=0.167	0.722222	0.055556	0.222222	1
East Asian	Sub	84	TG=0.88	=0.12	0.785714	0.02381	0.190476	0
Other Asian	Sub	24	TG=0.67	=0.33	0.5	0.166667	0.333333	0
Latin American 1	Sub	146	TG=0.904	=0.096	0.821918	0.013699	0.164384	0
Latin American 2	Sub	610	TG=0.931	=0.069	0.868852	0.006557	0.12459	0
South Asian	Sub	94	TG=0.79	=0.21	0.638298	0.06383	0.297872	0
Other	Sub	478	TG=0.912	=0.088	0.824268	0.0	0.175732	1

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
TopMed	Global	Study-wide	264690	TG=0.919600	delTG=0.080400
gnomAD - Genomes	Global	Study-wide	139968	TG=0.918631	delTG=0.081369
gnomAD - Genomes	European	Sub	75770	TG=0.89377	delTG=0.10623
gnomAD - Genomes	African	Sub	41984	TG=0.97273	delTG=0.02727
gnomAD - Genomes	American	Sub	13620	TG=0.91138	delTG=0.08862
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	TG=0.8761	delTG=0.1239
gnomAD - Genomes	East Asian	Sub	3126	TG=0.8717	delTG=0.1283
gnomAD - Genomes	Other	Sub	2144	TG=0.9184	delTG=0.0816
14KJPN	JAPANESE	Study-wide	28258	TG=0.88453	delTG=0.11547
8.3KJPN	JAPANESE	Study-wide	16760	TG=0.88383	delTG=0.11617
Allele Frequency Aggregator	Total	Global	16332	TG=0.90375	delTG=0.09625
Allele Frequency Aggregator	European	Sub	12080	TG=0.88593	delTG=0.11407
Allele Frequency Aggregator	African	Sub	2816	TG=0.9794	delTG=0.0206
Allele Frequency Aggregator	Latin American 2	Sub	610	TG=0.931	delTG=0.069
Allele Frequency Aggregator	Other	Sub	478	TG=0.912	delTG=0.088
Allele Frequency Aggregator	Latin American 1	Sub	146	TG=0.904	delTG=0.096
Allele Frequency Aggregator	Asian	Sub	108	TG=0.833	delTG=0.167
Allele Frequency Aggregator	South Asian	Sub	94	TG=0.79	delTG=0.21
1000Genomes_30x	Global	Study-wide	6404	TG=0.9099	delTG=0.0901
1000Genomes_30x	African	Sub	1786	TG=0.9832	delTG=0.0168
1000Genomes_30x	Europe	Sub	1266	TG=0.9005	delTG=0.0995
1000Genomes_30x	South Asian	Sub	1202	TG=0.8170	delTG=0.1830
1000Genomes_30x	East Asian	Sub	1170	TG=0.8641	delTG=0.1359
1000Genomes_30x	American	Sub	980	TG=0.957	delTG=0.043
1000Genomes	Global	Study-wide	5008	TG=0.9071	delTG=0.0929
1000Genomes	African	Sub	1322	TG=0.9818	delTG=0.0182
1000Genomes	East Asian	Sub	1008	TG=0.8651	delTG=0.1349
1000Genomes	Europe	Sub	1006	TG=0.9066	delTG=0.0934
1000Genomes	South Asian	Sub	978	TG=0.818	delTG=0.182
1000Genomes	American	Sub	694	TG=0.952	delTG=0.048
Genetic variation in the Estonian population	Estonian	Study-wide	4480	TG=0.8875	delTG=0.1125
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	TG=0.8988	delTG=0.1012
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	TG=0.8929	delTG=0.1071
Korean Genome Project	KOREAN	Study-wide	1832	TG=0.8859	delTG=0.1141
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	TG=0.906	delTG=0.094
Northern Sweden	ACPOP	Study-wide	600	TG=0.927	delTG=0.073
A Vietnamese Genetic Variation Database	Global	Study-wide	214	TG=0.930	delTG=0.070
The Danish reference pan genome	Danish	Study-wide	40	TG=0.82	delTG=0.17

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 18	NC_000018.10:g.62112984_62112985del
GRCh37.p13 chr 18	NC_000018.9:g.59780217_59780218del
PIGN RefSeqGene	NG_033144.1:g.79072_79073del

Gene: PIGN, phosphatidylinositol glycan anchor biosynthesis class N (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PIGN transcript variant 2	NM_012327.6:c.1434+149_14… NM_012327.6:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant 1	NM_176787.5:c.1434+149_14… NM_176787.5:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X1	XM_011525889.2:c.1434+149… XM_011525889.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X4	XM_011525890.2:c.1434+149… XM_011525890.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X5	XM_011525891.2:c.1434+149… XM_011525891.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X2	XM_011525892.2:c.1434+149… XM_011525892.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X6	XM_011525893.2:c.1434+149… XM_011525893.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X7	XM_011525894.2:c.1434+149… XM_011525894.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X3	XM_011525895.2:c.1434+149… XM_011525895.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X8	XM_011525896.2:c.1434+149… XM_011525896.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X14	XM_011525898.2:c.1434+149… XM_011525898.2:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X30	XM_017025685.2:c.1173-590… XM_017025685.2:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X9	XM_047437430.1:c.1434+149… XM_047437430.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X10	XM_047437431.1:c.1434+149… XM_047437431.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X11	XM_047437432.1:c.1434+149… XM_047437432.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X12	XM_047437433.1:c.1434+149… XM_047437433.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X13	XM_047437434.1:c.1434+149… XM_047437434.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X15	XM_047437435.1:c.1434+149… XM_047437435.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X16	XM_047437436.1:c.1434+149… XM_047437436.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X17	XM_047437437.1:c.1434+149… XM_047437437.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X18	XM_047437438.1:c.1434+149… XM_047437438.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X19	XM_047437439.1:c.1434+149… XM_047437439.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X20	XM_047437440.1:c.1434+149… XM_047437440.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X21	XM_047437441.1:c.1434+149… XM_047437441.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X22	XM_047437442.1:c.1434+149… XM_047437442.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X23	XM_047437443.1:c.1434+149… XM_047437443.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X24	XM_047437444.1:c.1434+149… XM_047437444.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X25	XM_047437445.1:c.1434+149… XM_047437445.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X26	XM_047437446.1:c.1434+149… XM_047437446.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X27	XM_047437447.1:c.1434+149… XM_047437447.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X28	XM_047437448.1:c.1434+149… XM_047437448.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X29	XM_047437449.1:c.1434+149… XM_047437449.1:c.1434+149_1434+150del	N/A	Intron Variant
PIGN transcript variant X31	XM_047437450.1:c.1173-590… XM_047437450.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X32	XM_047437451.1:c.1173-590… XM_047437451.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X33	XM_047437452.1:c.1173-590… XM_047437452.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X34	XM_047437453.1:c.1173-590… XM_047437453.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X35	XM_047437454.1:c.1173-590… XM_047437454.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X36	XM_047437455.1:c.1173-590… XM_047437455.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X37	XM_047437456.1:c.1173-590… XM_047437456.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X38	XM_047437457.1:c.1173-590… XM_047437457.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X39	XM_047437458.1:c.1173-590… XM_047437458.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X40	XM_047437459.1:c.1173-590… XM_047437459.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X41	XM_047437460.1:c.1173-590… XM_047437460.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X42	XM_047437461.1:c.1173-590… XM_047437461.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X43	XM_047437462.1:c.1173-590… XM_047437462.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X44	XM_047437463.1:c.1173-590… XM_047437463.1:c.1173-5900_1173-5899del	N/A	Intron Variant
PIGN transcript variant X45	XM_047437464.1:c.1173-590… XM_047437464.1:c.1173-5900_1173-5899del	N/A	Intron 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: delTG (allele ID: 1222647 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001617650.3	not provided	Benign

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	TG=	delTG
GRCh38.p14 chr 18	NC_000018.10:g.62112984_62112985=	NC_000018.10:g.62112984_62112985del
GRCh37.p13 chr 18	NC_000018.9:g.59780217_59780218=	NC_000018.9:g.59780217_59780218del
PIGN RefSeqGene	NG_033144.1:g.79072_79073=	NG_033144.1:g.79072_79073del
PIGN transcript variant 2	NM_012327.5:c.1434+150=	NM_012327.5:c.1434+149_1434+150del
PIGN transcript variant 2	NM_012327.6:c.1434+150=	NM_012327.6:c.1434+149_1434+150del
PIGN transcript variant 1	NM_176787.4:c.1434+150=	NM_176787.4:c.1434+149_1434+150del
PIGN transcript variant 1	NM_176787.5:c.1434+150=	NM_176787.5:c.1434+149_1434+150del
PIGN transcript variant X1	XM_005266675.1:c.1434+150=	XM_005266675.1:c.1434+149_1434+150del
PIGN transcript variant X2	XM_005266676.1:c.1374+150=	XM_005266676.1:c.1374+149_1374+150del
PIGN transcript variant X1	XM_011525889.2:c.1434+150=	XM_011525889.2:c.1434+149_1434+150del
PIGN transcript variant X4	XM_011525890.2:c.1434+150=	XM_011525890.2:c.1434+149_1434+150del
PIGN transcript variant X5	XM_011525891.2:c.1434+150=	XM_011525891.2:c.1434+149_1434+150del
PIGN transcript variant X2	XM_011525892.2:c.1434+150=	XM_011525892.2:c.1434+149_1434+150del
PIGN transcript variant X6	XM_011525893.2:c.1434+150=	XM_011525893.2:c.1434+149_1434+150del
PIGN transcript variant X7	XM_011525894.2:c.1434+150=	XM_011525894.2:c.1434+149_1434+150del
PIGN transcript variant X3	XM_011525895.2:c.1434+150=	XM_011525895.2:c.1434+149_1434+150del
PIGN transcript variant X8	XM_011525896.2:c.1434+150=	XM_011525896.2:c.1434+149_1434+150del
PIGN transcript variant X14	XM_011525898.2:c.1434+150=	XM_011525898.2:c.1434+149_1434+150del
PIGN transcript variant X30	XM_017025685.2:c.1173-5899=	XM_017025685.2:c.1173-5900_1173-5899del
PIGN transcript variant X9	XM_047437430.1:c.1434+150=	XM_047437430.1:c.1434+149_1434+150del
PIGN transcript variant X10	XM_047437431.1:c.1434+150=	XM_047437431.1:c.1434+149_1434+150del
PIGN transcript variant X11	XM_047437432.1:c.1434+150=	XM_047437432.1:c.1434+149_1434+150del
PIGN transcript variant X12	XM_047437433.1:c.1434+150=	XM_047437433.1:c.1434+149_1434+150del
PIGN transcript variant X13	XM_047437434.1:c.1434+150=	XM_047437434.1:c.1434+149_1434+150del
PIGN transcript variant X15	XM_047437435.1:c.1434+150=	XM_047437435.1:c.1434+149_1434+150del
PIGN transcript variant X16	XM_047437436.1:c.1434+150=	XM_047437436.1:c.1434+149_1434+150del
PIGN transcript variant X17	XM_047437437.1:c.1434+150=	XM_047437437.1:c.1434+149_1434+150del
PIGN transcript variant X18	XM_047437438.1:c.1434+150=	XM_047437438.1:c.1434+149_1434+150del
PIGN transcript variant X19	XM_047437439.1:c.1434+150=	XM_047437439.1:c.1434+149_1434+150del
PIGN transcript variant X20	XM_047437440.1:c.1434+150=	XM_047437440.1:c.1434+149_1434+150del
PIGN transcript variant X21	XM_047437441.1:c.1434+150=	XM_047437441.1:c.1434+149_1434+150del
PIGN transcript variant X22	XM_047437442.1:c.1434+150=	XM_047437442.1:c.1434+149_1434+150del
PIGN transcript variant X23	XM_047437443.1:c.1434+150=	XM_047437443.1:c.1434+149_1434+150del
PIGN transcript variant X24	XM_047437444.1:c.1434+150=	XM_047437444.1:c.1434+149_1434+150del
PIGN transcript variant X25	XM_047437445.1:c.1434+150=	XM_047437445.1:c.1434+149_1434+150del
PIGN transcript variant X26	XM_047437446.1:c.1434+150=	XM_047437446.1:c.1434+149_1434+150del
PIGN transcript variant X27	XM_047437447.1:c.1434+150=	XM_047437447.1:c.1434+149_1434+150del
PIGN transcript variant X28	XM_047437448.1:c.1434+150=	XM_047437448.1:c.1434+149_1434+150del
PIGN transcript variant X29	XM_047437449.1:c.1434+150=	XM_047437449.1:c.1434+149_1434+150del
PIGN transcript variant X31	XM_047437450.1:c.1173-5899=	XM_047437450.1:c.1173-5900_1173-5899del
PIGN transcript variant X32	XM_047437451.1:c.1173-5899=	XM_047437451.1:c.1173-5900_1173-5899del
PIGN transcript variant X33	XM_047437452.1:c.1173-5899=	XM_047437452.1:c.1173-5900_1173-5899del
PIGN transcript variant X34	XM_047437453.1:c.1173-5899=	XM_047437453.1:c.1173-5900_1173-5899del
PIGN transcript variant X35	XM_047437454.1:c.1173-5899=	XM_047437454.1:c.1173-5900_1173-5899del
PIGN transcript variant X36	XM_047437455.1:c.1173-5899=	XM_047437455.1:c.1173-5900_1173-5899del
PIGN transcript variant X37	XM_047437456.1:c.1173-5899=	XM_047437456.1:c.1173-5900_1173-5899del
PIGN transcript variant X38	XM_047437457.1:c.1173-5899=	XM_047437457.1:c.1173-5900_1173-5899del
PIGN transcript variant X39	XM_047437458.1:c.1173-5899=	XM_047437458.1:c.1173-5900_1173-5899del
PIGN transcript variant X40	XM_047437459.1:c.1173-5899=	XM_047437459.1:c.1173-5900_1173-5899del
PIGN transcript variant X41	XM_047437460.1:c.1173-5899=	XM_047437460.1:c.1173-5900_1173-5899del
PIGN transcript variant X42	XM_047437461.1:c.1173-5899=	XM_047437461.1:c.1173-5900_1173-5899del
PIGN transcript variant X43	XM_047437462.1:c.1173-5899=	XM_047437462.1:c.1173-5900_1173-5899del
PIGN transcript variant X44	XM_047437463.1:c.1173-5899=	XM_047437463.1:c.1173-5900_1173-5899del
PIGN transcript variant X45	XM_047437464.1:c.1173-5899=	XM_047437464.1:c.1173-5900_1173-5899del

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#.

37 SubSNP, 15 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4282934	Jan 05, 2002 (102)
2	GMI	ss155744634	Dec 01, 2009 (131)
3	GMI	ss289360635	May 04, 2012 (137)
4	1000GENOMES	ss327857236	May 09, 2011 (135)
5	1000GENOMES	ss327988772	May 09, 2011 (135)
6	1000GENOMES	ss499447792	May 04, 2012 (137)
7	LUNTER	ss552582984	Apr 25, 2013 (138)
8	LUNTER	ss553645444	Apr 25, 2013 (138)
9	SSMP	ss664410324	Apr 01, 2015 (144)
10	EVA-GONL	ss993839454	Aug 21, 2014 (142)
11	1000GENOMES	ss1377610455	Aug 21, 2014 (142)
12	EVA_GENOME_DK	ss1575173467	Apr 01, 2015 (144)
13	EVA_DECODE	ss1697901574	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1709030712	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1709031345	Apr 01, 2015 (144)
16	JJLAB	ss2031378227	Sep 14, 2016 (149)
17	SYSTEMSBIOZJU	ss2629210561	Nov 08, 2017 (151)
18	GNOMAD	ss2957853874	Nov 08, 2017 (151)
19	SWEGEN	ss3016696405	Nov 08, 2017 (151)
20	BIOINF_KMB_FNS_UNIBA	ss3645493380	Oct 12, 2018 (152)
21	EGCUT_WGS	ss3683545190	Jul 13, 2019 (153)
22	EVA_DECODE	ss3701866499	Jul 13, 2019 (153)
23	ACPOP	ss3742636656	Jul 13, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3820776412	Jul 13, 2019 (153)
25	KOGIC	ss3980348197	Apr 27, 2020 (154)
26	TOPMED	ss5060356834	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5225637595	Apr 26, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5305654342	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5498388412	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5610681390	Oct 16, 2022 (156)
31	SANFORD_IMAGENETICS	ss5661501747	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5783562296	Oct 16, 2022 (156)
33	YY_MCH	ss5817190692	Oct 16, 2022 (156)
34	EVA	ss5827689246	Oct 16, 2022 (156)
35	EVA	ss5852099355	Oct 16, 2022 (156)
36	EVA	ss5874505561	Oct 16, 2022 (156)
37	EVA	ss5952930114	Oct 16, 2022 (156)
38	1000Genomes	NC_000018.9 - 59780217	Oct 12, 2018 (152)
39	1000Genomes_30x	NC_000018.10 - 62112984	Oct 16, 2022 (156)
40	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 59780217	Oct 12, 2018 (152)
41	Genetic variation in the Estonian population	NC_000018.9 - 59780217	Oct 12, 2018 (152)
42	The Danish reference pan genome	NC_000018.9 - 59780217	Apr 27, 2020 (154)
43	gnomAD - Genomes	NC_000018.10 - 62112984	Apr 26, 2021 (155)
44	Genome of the Netherlands Release 5	NC_000018.9 - 59780217	Apr 27, 2020 (154)
45	Korean Genome Project	NC_000018.10 - 62112984	Apr 27, 2020 (154)
46	Northern Sweden	NC_000018.9 - 59780217	Jul 13, 2019 (153)
47	8.3KJPN	NC_000018.9 - 59780217	Apr 26, 2021 (155)
48	14KJPN	NC_000018.10 - 62112984	Oct 16, 2022 (156)
49	TopMed	NC_000018.10 - 62112984	Apr 26, 2021 (155)
50	UK 10K study - Twins	NC_000018.9 - 59780217	Oct 12, 2018 (152)
51	A Vietnamese Genetic Variation Database	NC_000018.9 - 59780217	Jul 13, 2019 (153)
52	ALFA	NC_000018.10 - 62112984	Apr 26, 2021 (155)
53	ClinVar	RCV001617650.3	Oct 16, 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)
rs143302575	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss289360635, ss327857236, ss327988772, ss552582984, ss553645444, ss1697901574	NC_000018.8:57931196:TG:	NC_000018.10:62112983:TG:	(self)
74785217, 41449504, 29283438, 604545, 18464782, 15921521, 83606902, 41449504, 9158512, ss499447792, ss664410324, ss993839454, ss1377610455, ss1575173467, ss1709030712, ss1709031345, ss2031378227, ss2629210561, ss2957853874, ss3016696405, ss3683545190, ss3742636656, ss5225637595, ss5661501747, ss5827689246, ss5952930114	NC_000018.9:59780216:TG:	NC_000018.10:62112983:TG:	(self)
RCV001617650.3, 98207325, 527526392, 36726198, 117399400, 275902497, 4450715752, ss3645493380, ss3701866499, ss3820776412, ss3980348197, ss5060356834, ss5305654342, ss5498388412, ss5610681390, ss5783562296, ss5817190692, ss5852099355, ss5874505561	NC_000018.10:62112983:TG:	NC_000018.10:62112983:TG:	(self)
ss4282934, ss155744634	NT_025028.14:7571080:TG:	NC_000018.10:62112983:TG:	(self)

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

No publications for rs3051702

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3051702