Name: rs13157270
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.

rs13157270

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:90716562 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.079889 (24335/304612, ALFA)
A=0.056761 (15024/264690, TOPMED)
A=0.067663 (16817/248542, GnomAD_exome) (+ 26 more)
A=0.064166 (8991/140122, GnomAD)
A=0.068610 (8185/119298, ExAC)
A=0.03718 (2926/78702, PAGE_STUDY)
A=0.00011 (3/28258, 14KJPN)
A=0.00006 (1/16760, 8.3KJPN)
A=0.06503 (774/11902, GO-ESP)
A=0.0436 (279/6404, 1000G_30x)
A=0.0465 (233/5008, 1000G)
A=0.1058 (474/4480, Estonian)
A=0.0815 (314/3854, ALSPAC)
A=0.0866 (321/3708, TWINSUK)
A=0.0427 (89/2084, HGDP_Stanford)
A=0.0414 (60/1450, HapMap)
A=0.0733 (83/1132, Daghestan)
A=0.096 (96/998, GoNL)
A=0.001 (1/792, PRJEB37584)
A=0.072 (43/600, NorthernSweden)
A=0.052 (28/534, MGP)
A=0.109 (33/304, FINRISK)
A=0.069 (15/216, Qatari)
A=0.005 (1/214, Vietnamese)
G=0.45 (25/56, SGDP_PRJ)
A=0.12 (6/50, Ancient Sardinia)
A=0.10 (4/40, GENOME_DK)
G=0.5 (2/4, Siberian)
A=0.5 (2/4, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ADGRV1 : Missense Variant
LOC105379077 : Intron Variant
Publications: 2 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	321090	G=0.920854	A=0.079146
European	Sub	263054	G=0.913755	A=0.086245
African	Sub	16212	G=0.97212	A=0.02788
African Others	Sub	576	G=0.991	A=0.009
African American	Sub	15636	G=0.97141	A=0.02859
Asian	Sub	6772	G=0.9931	A=0.0069
East Asian	Sub	4868	G=0.9986	A=0.0014
Other Asian	Sub	1904	G=0.9790	A=0.0210
Latin American 1	Sub	1346	G=0.9331	A=0.0669
Latin American 2	Sub	5982	G=0.9614	A=0.0386
South Asian	Sub	5220	G=0.9398	A=0.0602
Other	Sub	22504	G=0.92926	A=0.07074

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	304612	G=0.920111	A=0.079889
Allele Frequency Aggregator	European	Sub	252864	G=0.913673	A=0.086327
Allele Frequency Aggregator	Other	Sub	21052	G=0.92932	A=0.07068
Allele Frequency Aggregator	African	Sub	11376	G=0.97046	A=0.02954
Allele Frequency Aggregator	Asian	Sub	6772	G=0.9931	A=0.0069
Allele Frequency Aggregator	Latin American 2	Sub	5982	G=0.9614	A=0.0386
Allele Frequency Aggregator	South Asian	Sub	5220	G=0.9398	A=0.0602
Allele Frequency Aggregator	Latin American 1	Sub	1346	G=0.9331	A=0.0669
TopMed	Global	Study-wide	264690	G=0.943239	A=0.056761
gnomAD - Exomes	Global	Study-wide	248542	G=0.932337	A=0.067663
gnomAD - Exomes	European	Sub	134036	G=0.909039	A=0.090961
gnomAD - Exomes	Asian	Sub	48480	G=0.95870	A=0.04130
gnomAD - Exomes	American	Sub	34472	G=0.96768	A=0.03232
gnomAD - Exomes	African	Sub	15474	G=0.97518	A=0.02482
gnomAD - Exomes	Ashkenazi Jewish	Sub	10042	G=0.93258	A=0.06742
gnomAD - Exomes	Other	Sub	6038	G=0.9258	A=0.0742
gnomAD - Genomes	Global	Study-wide	140122	G=0.935834	A=0.064166
gnomAD - Genomes	European	Sub	75870	G=0.90816	A=0.09184
gnomAD - Genomes	African	Sub	42002	G=0.97353	A=0.02647
gnomAD - Genomes	American	Sub	13650	G=0.95817	A=0.04183
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.9353	A=0.0647
gnomAD - Genomes	East Asian	Sub	3128	G=0.9981	A=0.0019
gnomAD - Genomes	Other	Sub	2150	G=0.9447	A=0.0553
ExAC	Global	Study-wide	119298	G=0.931390	A=0.068610
ExAC	Europe	Sub	72462	G=0.91113	A=0.08887
ExAC	Asian	Sub	24790	G=0.95688	A=0.04312
ExAC	American	Sub	11434	G=0.96843	A=0.03157
ExAC	African	Sub	9730	G=0.9736	A=0.0264
ExAC	Other	Sub	882	G=0.934	A=0.066
The PAGE Study	Global	Study-wide	78702	G=0.96282	A=0.03718
The PAGE Study	AfricanAmerican	Sub	32516	G=0.97251	A=0.02749
The PAGE Study	Mexican	Sub	10810	G=0.96263	A=0.03737
The PAGE Study	Asian	Sub	8318	G=0.9978	A=0.0022
The PAGE Study	PuertoRican	Sub	7918	G=0.9451	A=0.0549
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9014	A=0.0986
The PAGE Study	Cuban	Sub	4230	G=0.9390	A=0.0610
The PAGE Study	Dominican	Sub	3828	G=0.9483	A=0.0517
The PAGE Study	CentralAmerican	Sub	2450	G=0.9698	A=0.0302
The PAGE Study	SouthAmerican	Sub	1982	G=0.9612	A=0.0388
The PAGE Study	NativeAmerican	Sub	1260	G=0.9421	A=0.0579
The PAGE Study	SouthAsian	Sub	856	G=0.944	A=0.056
14KJPN	JAPANESE	Study-wide	28258	G=0.99989	A=0.00011
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99994	A=0.00006
GO Exome Sequencing Project	Global	Study-wide	11902	G=0.93497	A=0.06503
GO Exome Sequencing Project	European American	Sub	8192	G=0.9185	A=0.0815
GO Exome Sequencing Project	African American	Sub	3710	G=0.9714	A=0.0286
1000Genomes_30x	Global	Study-wide	6404	G=0.9564	A=0.0436
1000Genomes_30x	African	Sub	1786	G=0.9849	A=0.0151
1000Genomes_30x	Europe	Sub	1266	G=0.8957	A=0.1043
1000Genomes_30x	South Asian	Sub	1202	G=0.9260	A=0.0740
1000Genomes_30x	East Asian	Sub	1170	G=0.9966	A=0.0034
1000Genomes_30x	American	Sub	980	G=0.972	A=0.028
1000Genomes	Global	Study-wide	5008	G=0.9535	A=0.0465
1000Genomes	African	Sub	1322	G=0.9856	A=0.0144
1000Genomes	East Asian	Sub	1008	G=0.9960	A=0.0040
1000Genomes	Europe	Sub	1006	G=0.8907	A=0.1093
1000Genomes	South Asian	Sub	978	G=0.921	A=0.079
1000Genomes	American	Sub	694	G=0.967	A=0.033
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8942	A=0.1058
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9185	A=0.0815
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9134	A=0.0866
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.9573	A=0.0427
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.994	A=0.006
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.971	A=0.029
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.920	A=0.080
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.912	A=0.087
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.971	A=0.029
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.995	A=0.005
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.86	A=0.14
HapMap	Global	Study-wide	1450	G=0.9586	A=0.0414
HapMap	African	Sub	688	G=0.980	A=0.020
HapMap	American	Sub	498	G=0.930	A=0.070
HapMap	Europe	Sub	174	G=0.937	A=0.063
HapMap	Asian	Sub	90	G=1.00	A=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	G=0.9267	A=0.0733
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.922	A=0.078
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.917	A=0.083
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.926	A=0.074
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.917	A=0.083
Genome-wide autozygosity in Daghestan	South Asian	Sub	94	G=0.98	A=0.02
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.94	A=0.06
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.904	A=0.096
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.999	A=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.999	A=0.001
Northern Sweden	ACPOP	Study-wide	600	G=0.928	A=0.072
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.948	A=0.052
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.891	A=0.109
Qatari	Global	Study-wide	216	G=0.931	A=0.069
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.995	A=0.005
SGDP_PRJ	Global	Study-wide	56	G=0.45	A=0.55
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	50	G=0.88	A=0.12
The Danish reference pan genome	Danish	Study-wide	40	G=0.90	A=0.10
Siberian	Global	Study-wide	4	G=0.5	A=0.5

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 5	NC_000005.10:g.90716562G>A
GRCh37.p13 chr 5	NC_000005.9:g.90012379G>A
ADGRV1 RefSeqGene (LRG_1095)	NG_007083.2:g.192219G>A

Gene: ADGRV1, adhesion G protein-coupled receptor V1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADGRV1 transcript variant 1	NM_032119.4:c.9280G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 precursor	NP_115495.3:p.Val3094Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant 2	NR_003149.2:n.9296G>A	N/A	Non Coding Transcript Variant
ADGRV1 transcript variant X1	XM_017009963.3:c.9301G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X1	XP_016865452.1:p.Val3101I… XP_016865452.1:p.Val3101Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X2	XM_017009965.2:c.9298G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X2	XP_016865454.1:p.Val3100I… XP_016865454.1:p.Val3100Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X3	XM_017009964.3:c.9298G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X3	XP_016865453.1:p.Val3100I… XP_016865453.1:p.Val3100Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X4	XM_047417824.1:c.9277G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X4	XP_047273780.1:p.Val3093I… XP_047273780.1:p.Val3093Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X5	XM_017009966.3:c.9220G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X5	XP_016865455.1:p.Val3074I… XP_016865455.1:p.Val3074Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X6	XM_017009967.2:c.9205G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X6	XP_016865456.1:p.Val3069I… XP_016865456.1:p.Val3069Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X7	XM_017009968.3:c.9301G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X7	XP_016865457.1:p.Val3101I… XP_016865457.1:p.Val3101Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X8	XM_017009969.3:c.9301G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X8	XP_016865458.1:p.Val3101I… XP_016865458.1:p.Val3101Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X9	XM_017009970.3:c.9301G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X9	XP_016865459.1:p.Val3101I… XP_016865459.1:p.Val3101Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X10	XM_017009971.3:c.9301G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X10	XP_016865460.1:p.Val3101I… XP_016865460.1:p.Val3101Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X11	XM_017009972.2:c.2419G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X11	XP_016865461.1:p.Val807Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X12	XM_017009973.2:c.2398G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X12	XP_016865462.1:p.Val800Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X13	XM_017009974.3:c.9301G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X13	XP_016865463.1:p.Val3101I… XP_016865463.1:p.Val3101Ile	V (Val) > I (Ile)	Missense Variant
ADGRV1 transcript variant X14	XM_047417825.1:c.9280G>A	V [GTC] > I [ATC]	Coding Sequence Variant
adhesion G-protein coupled receptor V1 isoform X14	XP_047273781.1:p.Val3094I… XP_047273781.1:p.Val3094Ile	V (Val) > I (Ile)	Missense Variant

Gene: LOC105379077, uncharacterized LOC105379077 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105379077 transcript	XR_001742802.2:n.	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: A (allele ID: 55568 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000039659.12	not specified	Benign
RCV001157217.3	Usher syndrome type 2C	Benign
RCV001512357.6	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	G=	A
GRCh38.p14 chr 5	NC_000005.10:g.90716562=	NC_000005.10:g.90716562G>A
GRCh37.p13 chr 5	NC_000005.9:g.90012379=	NC_000005.9:g.90012379G>A
ADGRV1 RefSeqGene (LRG_1095)	NG_007083.2:g.192219=	NG_007083.2:g.192219G>A
ADGRV1 transcript variant 1	NM_032119.4:c.9280=	NM_032119.4:c.9280G>A
ADGRV1 transcript variant 1	NM_032119.3:c.9280=	NM_032119.3:c.9280G>A
ADGRV1 transcript variant 2	NR_003149.2:n.9296=	NR_003149.2:n.9296G>A
ADGRV1 transcript variant 2	NR_003149.1:n.9293=	NR_003149.1:n.9293G>A
ADGRV1 transcript variant X1	XM_017009963.3:c.9301=	XM_017009963.3:c.9301G>A
ADGRV1 transcript variant X1	XM_017009963.2:c.9301=	XM_017009963.2:c.9301G>A
ADGRV1 transcript variant X1	XM_017009963.1:c.9301=	XM_017009963.1:c.9301G>A
ADGRV1 transcript variant X3	XM_017009964.3:c.9298=	XM_017009964.3:c.9298G>A
ADGRV1 transcript variant X2	XM_017009964.2:c.9298=	XM_017009964.2:c.9298G>A
ADGRV1 transcript variant X2	XM_017009964.1:c.9298=	XM_017009964.1:c.9298G>A
ADGRV1 transcript variant X5	XM_017009966.3:c.9220=	XM_017009966.3:c.9220G>A
ADGRV1 transcript variant X4	XM_017009966.2:c.9220=	XM_017009966.2:c.9220G>A
ADGRV1 transcript variant X4	XM_017009966.1:c.9220=	XM_017009966.1:c.9220G>A
ADGRV1 transcript variant X7	XM_017009968.3:c.9301=	XM_017009968.3:c.9301G>A
ADGRV1 transcript variant X6	XM_017009968.2:c.9301=	XM_017009968.2:c.9301G>A
ADGRV1 transcript variant X6	XM_017009968.1:c.9301=	XM_017009968.1:c.9301G>A
ADGRV1 transcript variant X8	XM_017009969.3:c.9301=	XM_017009969.3:c.9301G>A
ADGRV1 transcript variant X7	XM_017009969.2:c.9301=	XM_017009969.2:c.9301G>A
ADGRV1 transcript variant X7	XM_017009969.1:c.9301=	XM_017009969.1:c.9301G>A
ADGRV1 transcript variant X10	XM_017009971.3:c.9301=	XM_017009971.3:c.9301G>A
ADGRV1 transcript variant X9	XM_017009971.2:c.9301=	XM_017009971.2:c.9301G>A
ADGRV1 transcript variant X9	XM_017009971.1:c.9301=	XM_017009971.1:c.9301G>A
ADGRV1 transcript variant X9	XM_017009970.3:c.9301=	XM_017009970.3:c.9301G>A
ADGRV1 transcript variant X8	XM_017009970.2:c.9301=	XM_017009970.2:c.9301G>A
ADGRV1 transcript variant X8	XM_017009970.1:c.9301=	XM_017009970.1:c.9301G>A
ADGRV1 transcript variant X13	XM_017009974.3:c.9301=	XM_017009974.3:c.9301G>A
ADGRV1 transcript variant X12	XM_017009974.2:c.9301=	XM_017009974.2:c.9301G>A
ADGRV1 transcript variant X12	XM_017009974.1:c.9301=	XM_017009974.1:c.9301G>A
ADGRV1 transcript variant X2	XM_017009965.2:c.9298=	XM_017009965.2:c.9298G>A
ADGRV1 transcript variant X3	XM_017009965.1:c.9298=	XM_017009965.1:c.9298G>A
ADGRV1 transcript variant X6	XM_017009967.2:c.9205=	XM_017009967.2:c.9205G>A
ADGRV1 transcript variant X5	XM_017009967.1:c.9205=	XM_017009967.1:c.9205G>A
ADGRV1 transcript variant X11	XM_017009972.2:c.2419=	XM_017009972.2:c.2419G>A
ADGRV1 transcript variant X10	XM_017009972.1:c.2419=	XM_017009972.1:c.2419G>A
ADGRV1 transcript variant X12	XM_017009973.2:c.2398=	XM_017009973.2:c.2398G>A
ADGRV1 transcript variant X11	XM_017009973.1:c.2398=	XM_017009973.1:c.2398G>A
ADGRV1 transcript variant X4	XM_047417824.1:c.9277=	XM_047417824.1:c.9277G>A
ADGRV1 transcript variant X14	XM_047417825.1:c.9280=	XM_047417825.1:c.9280G>A
adhesion G-protein coupled receptor V1 precursor	NP_115495.3:p.Val3094=	NP_115495.3:p.Val3094Ile
adhesion G-protein coupled receptor V1 isoform X1	XP_016865452.1:p.Val3101=	XP_016865452.1:p.Val3101Ile
adhesion G-protein coupled receptor V1 isoform X3	XP_016865453.1:p.Val3100=	XP_016865453.1:p.Val3100Ile
adhesion G-protein coupled receptor V1 isoform X5	XP_016865455.1:p.Val3074=	XP_016865455.1:p.Val3074Ile
adhesion G-protein coupled receptor V1 isoform X7	XP_016865457.1:p.Val3101=	XP_016865457.1:p.Val3101Ile
adhesion G-protein coupled receptor V1 isoform X8	XP_016865458.1:p.Val3101=	XP_016865458.1:p.Val3101Ile
adhesion G-protein coupled receptor V1 isoform X10	XP_016865460.1:p.Val3101=	XP_016865460.1:p.Val3101Ile
adhesion G-protein coupled receptor V1 isoform X9	XP_016865459.1:p.Val3101=	XP_016865459.1:p.Val3101Ile
adhesion G-protein coupled receptor V1 isoform X13	XP_016865463.1:p.Val3101=	XP_016865463.1:p.Val3101Ile
adhesion G-protein coupled receptor V1 isoform X2	XP_016865454.1:p.Val3100=	XP_016865454.1:p.Val3100Ile
adhesion G-protein coupled receptor V1 isoform X6	XP_016865456.1:p.Val3069=	XP_016865456.1:p.Val3069Ile
adhesion G-protein coupled receptor V1 isoform X11	XP_016865461.1:p.Val807=	XP_016865461.1:p.Val807Ile
adhesion G-protein coupled receptor V1 isoform X12	XP_016865462.1:p.Val800=	XP_016865462.1:p.Val800Ile
adhesion G-protein coupled receptor V1 isoform X4	XP_047273780.1:p.Val3093=	XP_047273780.1:p.Val3093Ile
adhesion G-protein coupled receptor V1 isoform X14	XP_047273781.1:p.Val3094=	XP_047273781.1:p.Val3094Ile

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#.

130 SubSNP, 28 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss22235744	Apr 05, 2004 (121)
2	ABI	ss42572165	Mar 15, 2006 (126)
3	ILLUMINA	ss66637943	Nov 29, 2006 (127)
4	ILLUMINA	ss67060813	Nov 29, 2006 (127)
5	ILLUMINA	ss67388567	Nov 29, 2006 (127)
6	PERLEGEN	ss68941914	May 16, 2007 (127)
7	ILLUMINA	ss70419862	May 16, 2007 (127)
8	ILLUMINA	ss70595884	May 26, 2008 (130)
9	ILLUMINA	ss71140300	May 16, 2007 (127)
10	AFFY	ss74816043	Aug 16, 2007 (128)
11	ILLUMINA	ss75526497	Dec 06, 2007 (129)
12	SI_EXO	ss76884916	Dec 06, 2007 (129)
13	KRIBB_YJKIM	ss85304769	Dec 15, 2007 (130)
14	HUMANGENOME_JCVI	ss98743375	Feb 06, 2009 (130)
15	1000GENOMES	ss109209261	Jan 23, 2009 (130)
16	ILLUMINA	ss121623014	Dec 01, 2009 (131)
17	ILLUMINA	ss153324995	Dec 01, 2009 (131)
18	ILLUMINA	ss159246880	Dec 01, 2009 (131)
19	ILLUMINA	ss160320186	Dec 01, 2009 (131)
20	ILLUMINA	ss170302342	Jul 04, 2010 (132)
21	ILLUMINA	ss172340275	Jul 04, 2010 (132)
22	1000GENOMES	ss233033957	Jul 14, 2010 (132)
23	ILLUMINA	ss244278325	Jul 04, 2010 (132)
24	PJP	ss293400312	May 09, 2011 (134)
25	ILLUMINA	ss480497501	Sep 08, 2015 (146)
26	ILLUMINA	ss483634766	May 04, 2012 (137)
27	ILLUMINA	ss485097097	May 04, 2012 (137)
28	1000GENOMES	ss490906874	May 04, 2012 (137)
29	EXOME_CHIP	ss491368713	May 04, 2012 (137)
30	CLINSEQ_SNP	ss491869676	May 04, 2012 (137)
31	ILLUMINA	ss535838544	Sep 08, 2015 (146)
32	SSMP	ss652414308	Apr 25, 2013 (138)
33	NHLBI-ESP	ss712648911	Apr 25, 2013 (138)
34	ILLUMINA	ss779512475	Sep 08, 2015 (146)
35	ILLUMINA	ss780838791	Sep 08, 2015 (146)
36	ILLUMINA	ss782260770	Sep 08, 2015 (146)
37	ILLUMINA	ss783521996	Sep 08, 2015 (146)
38	ILLUMINA	ss825389136	Apr 01, 2015 (144)
39	ILLUMINA	ss832759166	Jul 13, 2019 (153)
40	ILLUMINA	ss834982854	Sep 08, 2015 (146)
41	EVA-GONL	ss981810128	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1067469602	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1072810227	Aug 21, 2014 (142)
44	1000GENOMES	ss1316019966	Aug 21, 2014 (142)
45	HAMMER_LAB	ss1397419751	Sep 08, 2015 (146)
46	EVA_GENOME_DK	ss1581230206	Apr 01, 2015 (144)
47	EVA_FINRISK	ss1584039775	Apr 01, 2015 (144)
48	EVA_DECODE	ss1591327672	Apr 01, 2015 (144)
49	EVA_UK10K_ALSPAC	ss1613377721	Apr 01, 2015 (144)
50	EVA_UK10K_TWINSUK	ss1656371754	Apr 01, 2015 (144)
51	EVA_EXAC	ss1687880581	Apr 01, 2015 (144)
52	EVA_MGP	ss1711091986	Apr 01, 2015 (144)
53	EVA_SVP	ss1712780646	Apr 01, 2015 (144)
54	ILLUMINA	ss1752589213	Sep 08, 2015 (146)
55	ILLUMINA	ss1917791841	Feb 12, 2016 (147)
56	WEILL_CORNELL_DGM	ss1925061983	Feb 12, 2016 (147)
57	ILLUMINA	ss1946149398	Feb 12, 2016 (147)
58	ILLUMINA	ss1958803003	Feb 12, 2016 (147)
59	JJLAB	ss2023137801	Sep 14, 2016 (149)
60	USC_VALOUEV	ss2151294361	Dec 20, 2016 (150)
61	HUMAN_LONGEVITY	ss2275634787	Dec 20, 2016 (150)
62	ILLUMINA	ss2634306642	Nov 08, 2017 (151)
63	ILLUMINA	ss2634306643	Nov 08, 2017 (151)
64	GNOMAD	ss2735113528	Nov 08, 2017 (151)
65	GNOMAD	ss2747418398	Nov 08, 2017 (151)
66	GNOMAD	ss2827329810	Nov 08, 2017 (151)
67	AFFY	ss2985326599	Nov 08, 2017 (151)
68	AFFY	ss2985960278	Nov 08, 2017 (151)
69	SWEGEN	ss2997315689	Nov 08, 2017 (151)
70	ILLUMINA	ss3022506828	Nov 08, 2017 (151)
71	BIOINF_KMB_FNS_UNIBA	ss3025353750	Nov 08, 2017 (151)
72	CSHL	ss3346492788	Nov 08, 2017 (151)
73	ILLUMINA	ss3629282882	Oct 12, 2018 (152)
74	ILLUMINA	ss3629282883	Oct 12, 2018 (152)
75	ILLUMINA	ss3632232310	Oct 12, 2018 (152)
76	ILLUMINA	ss3635011316	Oct 12, 2018 (152)
77	ILLUMINA	ss3636723460	Oct 12, 2018 (152)
78	ILLUMINA	ss3638566018	Oct 12, 2018 (152)
79	ILLUMINA	ss3639285642	Oct 12, 2018 (152)
80	ILLUMINA	ss3639666496	Oct 12, 2018 (152)
81	ILLUMINA	ss3640718609	Oct 12, 2018 (152)
82	ILLUMINA	ss3643511149	Oct 12, 2018 (152)
83	ILLUMINA	ss3644882362	Oct 12, 2018 (152)
84	OMUKHERJEE_ADBS	ss3646322217	Oct 12, 2018 (152)
85	URBANLAB	ss3648112904	Oct 12, 2018 (152)
86	ILLUMINA	ss3653003980	Oct 12, 2018 (152)
87	ILLUMINA	ss3654100562	Oct 12, 2018 (152)
88	EGCUT_WGS	ss3665200142	Jul 13, 2019 (153)
89	EVA_DECODE	ss3715131875	Jul 13, 2019 (153)
90	ILLUMINA	ss3726249481	Jul 13, 2019 (153)
91	ACPOP	ss3732558430	Jul 13, 2019 (153)
92	ILLUMINA	ss3744537577	Jul 13, 2019 (153)
93	ILLUMINA	ss3745311520	Jul 13, 2019 (153)
94	EVA	ss3763707759	Jul 13, 2019 (153)
95	PAGE_CC	ss3771215509	Jul 13, 2019 (153)
96	ILLUMINA	ss3772805625	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3806873780	Jul 13, 2019 (153)
98	EVA	ss3824097251	Apr 26, 2020 (154)
99	EVA	ss3825676261	Apr 26, 2020 (154)
100	EVA	ss3829359094	Apr 26, 2020 (154)
101	HGDP	ss3847798007	Apr 26, 2020 (154)
102	SGDP_PRJ	ss3862349105	Apr 26, 2020 (154)
103	FSA-LAB	ss3984310929	Apr 26, 2021 (155)
104	FSA-LAB	ss3984310930	Apr 26, 2021 (155)
105	EVA	ss3984550407	Apr 26, 2021 (155)
106	EVA	ss3985154279	Apr 26, 2021 (155)
107	EVA	ss3986312945	Apr 26, 2021 (155)
108	EVA	ss4017218073	Apr 26, 2021 (155)
109	TOPMED	ss4668147818	Apr 26, 2021 (155)
110	TOMMO_GENOMICS	ss5172818130	Apr 26, 2021 (155)
111	EVA	ss5237013998	Apr 26, 2021 (155)
112	EVA	ss5237643935	Oct 17, 2022 (156)
113	1000G_HIGH_COVERAGE	ss5264794647	Oct 17, 2022 (156)
114	TRAN_CS_UWATERLOO	ss5314413156	Oct 17, 2022 (156)
115	EVA	ss5315067498	Oct 17, 2022 (156)
116	EVA	ss5359056128	Oct 17, 2022 (156)
117	HUGCELL_USP	ss5462883806	Oct 17, 2022 (156)
118	EVA	ss5508101571	Oct 17, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5548875152	Oct 17, 2022 (156)
120	EVA	ss5624148555	Oct 17, 2022 (156)
121	SANFORD_IMAGENETICS	ss5638273350	Oct 17, 2022 (156)
122	TOMMO_GENOMICS	ss5709518754	Oct 17, 2022 (156)
123	EVA	ss5800054249	Oct 17, 2022 (156)
124	YY_MCH	ss5806519887	Oct 17, 2022 (156)
125	EVA	ss5835242242	Oct 17, 2022 (156)
126	EVA	ss5848056342	Oct 17, 2022 (156)
127	EVA	ss5848630584	Oct 17, 2022 (156)
128	EVA	ss5854906492	Oct 17, 2022 (156)
129	EVA	ss5895115314	Oct 17, 2022 (156)
130	EVA	ss5966713098	Oct 17, 2022 (156)
131	1000Genomes	NC_000005.9 - 90012379	Oct 12, 2018 (152)
132	1000Genomes_30x	NC_000005.10 - 90716562	Oct 17, 2022 (156)
133	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 90012379	Oct 12, 2018 (152)
134	Genome-wide autozygosity in Daghestan	NC_000005.8 - 90048135	Apr 26, 2020 (154)
135	Genetic variation in the Estonian population	NC_000005.9 - 90012379	Oct 12, 2018 (152)
136	ExAC	NC_000005.9 - 90012379	Oct 12, 2018 (152)
137	FINRISK	NC_000005.9 - 90012379	Apr 26, 2020 (154)
138	The Danish reference pan genome	NC_000005.9 - 90012379	Apr 26, 2020 (154)
139	gnomAD - Genomes	NC_000005.10 - 90716562	Apr 26, 2021 (155)
140	gnomAD - Exomes	NC_000005.9 - 90012379	Jul 13, 2019 (153)
141	GO Exome Sequencing Project	NC_000005.9 - 90012379	Oct 12, 2018 (152)
142	Genome of the Netherlands Release 5	NC_000005.9 - 90012379	Apr 26, 2020 (154)
143	HGDP-CEPH-db Supplement 1	NC_000005.8 - 90048135	Apr 26, 2020 (154)
144	HapMap	NC_000005.10 - 90716562	Apr 26, 2020 (154)
145	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 90012379	Apr 26, 2020 (154)
146	Northern Sweden	NC_000005.9 - 90012379	Jul 13, 2019 (153)
147	The PAGE Study	NC_000005.10 - 90716562	Jul 13, 2019 (153)
148	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 90012379	Apr 26, 2021 (155)
149	CNV burdens in cranial meningiomas	NC_000005.9 - 90012379	Apr 26, 2021 (155)
150	Qatari	NC_000005.9 - 90012379	Apr 26, 2020 (154)
151	SGDP_PRJ	NC_000005.9 - 90012379	Apr 26, 2020 (154)
152	Siberian	NC_000005.9 - 90012379	Apr 26, 2020 (154)
153	8.3KJPN	NC_000005.9 - 90012379	Apr 26, 2021 (155)
154	14KJPN	NC_000005.10 - 90716562	Oct 17, 2022 (156)
155	TopMed	NC_000005.10 - 90716562	Apr 26, 2021 (155)
156	UK 10K study - Twins	NC_000005.9 - 90012379	Oct 12, 2018 (152)
157	A Vietnamese Genetic Variation Database	NC_000005.9 - 90012379	Jul 13, 2019 (153)
158	ALFA	NC_000005.10 - 90716562	Apr 26, 2021 (155)
159	ClinVar	RCV000039659.12	Oct 17, 2022 (156)
160	ClinVar	RCV001157217.3	Oct 17, 2022 (156)
161	ClinVar	RCV001512357.6	Oct 17, 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)
rs52824610	Sep 21, 2007 (128)
rs60759220	May 26, 2008 (130)
rs386489924	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
394703, 475899, ss109209261, ss293400312, ss485097097, ss491869676, ss825389136, ss1397419751, ss1591327672, ss1712780646, ss3639285642, ss3639666496, ss3643511149, ss3847798007	NC_000005.8:90048134:G:A	NC_000005.10:90716561:G:A	(self)
27655063, 15378838, 10938390, 7877836, 36236, 7395145, 4233357, 555379, 6836651, 207746, 5843295, 380206, 99777, 7103913, 14366085, 3810715, 30787437, 15378838, 3413395, ss233033957, ss480497501, ss483634766, ss490906874, ss491368713, ss535838544, ss652414308, ss712648911, ss779512475, ss780838791, ss782260770, ss783521996, ss832759166, ss834982854, ss981810128, ss1067469602, ss1072810227, ss1316019966, ss1581230206, ss1584039775, ss1613377721, ss1656371754, ss1687880581, ss1711091986, ss1752589213, ss1917791841, ss1925061983, ss1946149398, ss1958803003, ss2023137801, ss2151294361, ss2634306642, ss2634306643, ss2735113528, ss2747418398, ss2827329810, ss2985326599, ss2985960278, ss2997315689, ss3022506828, ss3346492788, ss3629282882, ss3629282883, ss3632232310, ss3635011316, ss3636723460, ss3638566018, ss3640718609, ss3644882362, ss3646322217, ss3653003980, ss3654100562, ss3665200142, ss3732558430, ss3744537577, ss3745311520, ss3763707759, ss3772805625, ss3824097251, ss3825676261, ss3829359094, ss3862349105, ss3984310929, ss3984310930, ss3984550407, ss3985154279, ss3986312945, ss4017218073, ss5172818130, ss5315067498, ss5359056128, ss5508101571, ss5624148555, ss5638273350, ss5800054249, ss5835242242, ss5848056342, ss5848630584, ss5966713098	NC_000005.9:90012378:G:A	NC_000005.10:90716561:G:A	(self)
RCV000039659.12, RCV001157217.3, RCV001512357.6, 36401087, 195572878, 2911562, 436978, 43355858, 505525375, 9033626917, ss2275634787, ss3025353750, ss3648112904, ss3715131875, ss3726249481, ss3771215509, ss3806873780, ss4668147818, ss5237013998, ss5237643935, ss5264794647, ss5314413156, ss5462883806, ss5548875152, ss5709518754, ss5806519887, ss5854906492, ss5895115314	NC_000005.10:90716561:G:A	NC_000005.10:90716561:G:A	(self)
ss22235744	NT_006713.13:19404510:G:A	NC_000005.10:90716561:G:A	(self)
ss76884916	NT_006713.14:40606736:G:A	NC_000005.10:90716561:G:A	(self)
ss42572165, ss66637943, ss67060813, ss67388567, ss68941914, ss70419862, ss70595884, ss71140300, ss74816043, ss75526497, ss85304769, ss98743375, ss121623014, ss153324995, ss159246880, ss160320186, ss170302342, ss172340275, ss244278325	NT_006713.15:40606737:G:A	NC_000005.10:90716561:G:A	(self)

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

2 citations for rs13157270

PMID	Title	Author	Year	Journal
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
24949630	Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations.	Mosley JD et al.	2014	PloS one

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

rs13157270