Name: rs3784634
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.

rs3784634

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:61967438 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.311564 (82468/264690, TOPMED)
C=0.387325 (89885/232066, GnomAD_exome)
C=0.388695 (76349/196424, ALFA) (+ 26 more)
C=0.331924 (46381/139734, GnomAD)
C=0.371188 (44749/120556, ExAC)
C=0.23979 (18867/78682, PAGE_STUDY)
C=0.12071 (3411/28258, 14KJPN)
C=0.12232 (2050/16760, 8.3KJPN)
C=0.33226 (4316/12990, GO-ESP)
C=0.2466 (1579/6404, 1000G_30x)
C=0.2446 (1225/5008, 1000G)
C=0.4819 (2159/4480, Estonian)
C=0.4458 (1718/3854, ALSPAC)
C=0.4258 (1579/3708, TWINSUK)
C=0.1406 (412/2930, KOREAN)
C=0.2694 (549/2038, HGDP_Stanford)
C=0.1799 (300/1668, HapMap)
C=0.2989 (339/1134, Daghestan)
C=0.424 (423/998, GoNL)
C=0.128 (101/786, PRJEB37584)
C=0.135 (83/614, Vietnamese)
C=0.493 (296/600, NorthernSweden)
C=0.425 (227/534, MGP)
C=0.204 (103/504, SGDP_PRJ)
T=0.424 (129/304, FINRISK)
C=0.319 (69/216, Qatari)
C=0.35 (16/46, Siberian)
T=0.45 (18/40, GENOME_DK)
C=0.29 (10/34, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: VPS13C : Missense 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	196546	C=0.388647	T=0.611353
European	Sub	156460	C=0.416579	T=0.583421
African	Sub	10158	C=0.14265	T=0.85735
African Others	Sub	328	C=0.073	T=0.927
African American	Sub	9830	C=0.1450	T=0.8550
Asian	Sub	3300	C=0.1555	T=0.8445
East Asian	Sub	2038	C=0.1634	T=0.8366
Other Asian	Sub	1262	C=0.1426	T=0.8574
Latin American 1	Sub	942	C=0.317	T=0.683
Latin American 2	Sub	1350	C=0.4311	T=0.5689
South Asian	Sub	4982	C=0.2854	T=0.7146
Other	Sub	19354	C=0.35879	T=0.64121

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	C=0.311564	T=0.688436
gnomAD - Exomes	Global	Study-wide	232066	C=0.387325	T=0.612675
gnomAD - Exomes	European	Sub	128654	C=0.447588	T=0.552412
gnomAD - Exomes	Asian	Sub	43104	C=0.23854	T=0.76146
gnomAD - Exomes	American	Sub	30514	C=0.47277	T=0.52723
gnomAD - Exomes	African	Sub	14768	C=0.13137	T=0.86863
gnomAD - Exomes	Ashkenazi Jewish	Sub	9454	C=0.3704	T=0.6296
gnomAD - Exomes	Other	Sub	5572	C=0.3860	T=0.6140
Allele Frequency Aggregator	Total	Global	196424	C=0.388695	T=0.611305
Allele Frequency Aggregator	European	Sub	156356	C=0.416652	T=0.583348
Allele Frequency Aggregator	Other	Sub	19350	C=0.35881	T=0.64119
Allele Frequency Aggregator	African	Sub	10144	C=0.14235	T=0.85765
Allele Frequency Aggregator	South Asian	Sub	4982	C=0.2854	T=0.7146
Allele Frequency Aggregator	Asian	Sub	3300	C=0.1555	T=0.8445
Allele Frequency Aggregator	Latin American 2	Sub	1350	C=0.4311	T=0.5689
Allele Frequency Aggregator	Latin American 1	Sub	942	C=0.317	T=0.683
gnomAD - Genomes	Global	Study-wide	139734	C=0.331924	T=0.668076
gnomAD - Genomes	European	Sub	75612	C=0.43701	T=0.56299
gnomAD - Genomes	African	Sub	41964	C=0.13631	T=0.86369
gnomAD - Genomes	American	Sub	13572	C=0.38660	T=0.61340
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.3679	T=0.6321
gnomAD - Genomes	East Asian	Sub	3124	C=0.1508	T=0.8492
gnomAD - Genomes	Other	Sub	2138	C=0.3167	T=0.6833
ExAC	Global	Study-wide	120556	C=0.371188	T=0.628812
ExAC	Europe	Sub	72978	C=0.43376	T=0.56624
ExAC	Asian	Sub	25098	C=0.24082	T=0.75918
ExAC	American	Sub	11450	C=0.46734	T=0.53266
ExAC	African	Sub	10124	C=0.13236	T=0.86764
ExAC	Other	Sub	906	C=0.396	T=0.604
The PAGE Study	Global	Study-wide	78682	C=0.23979	T=0.76021
The PAGE Study	AfricanAmerican	Sub	32510	C=0.14263	T=0.85737
The PAGE Study	Mexican	Sub	10808	C=0.46845	T=0.53155
The PAGE Study	Asian	Sub	8318	C=0.1318	T=0.8682
The PAGE Study	PuertoRican	Sub	7908	C=0.3212	T=0.6788
The PAGE Study	NativeHawaiian	Sub	4532	C=0.1470	T=0.8530
The PAGE Study	Cuban	Sub	4230	C=0.3598	T=0.6402
The PAGE Study	Dominican	Sub	3828	C=0.2646	T=0.7354
The PAGE Study	CentralAmerican	Sub	2450	C=0.3494	T=0.6506
The PAGE Study	SouthAmerican	Sub	1982	C=0.3602	T=0.6398
The PAGE Study	NativeAmerican	Sub	1260	C=0.4048	T=0.5952
The PAGE Study	SouthAsian	Sub	856	C=0.292	T=0.708
14KJPN	JAPANESE	Study-wide	28258	C=0.12071	T=0.87929
8.3KJPN	JAPANESE	Study-wide	16760	C=0.12232	T=0.87768
GO Exome Sequencing Project	Global	Study-wide	12990	C=0.33226	T=0.66774
GO Exome Sequencing Project	European American	Sub	8588	C=0.4252	T=0.5748
GO Exome Sequencing Project	African American	Sub	4402	C=0.1508	T=0.8492
1000Genomes_30x	Global	Study-wide	6404	C=0.2466	T=0.7534
1000Genomes_30x	African	Sub	1786	C=0.0773	T=0.9227
1000Genomes_30x	Europe	Sub	1266	C=0.4447	T=0.5553
1000Genomes_30x	South Asian	Sub	1202	C=0.2612	T=0.7388
1000Genomes_30x	East Asian	Sub	1170	C=0.1487	T=0.8513
1000Genomes_30x	American	Sub	980	C=0.398	T=0.602
1000Genomes	Global	Study-wide	5008	C=0.2446	T=0.7554
1000Genomes	African	Sub	1322	C=0.0772	T=0.9228
1000Genomes	East Asian	Sub	1008	C=0.1458	T=0.8542
1000Genomes	Europe	Sub	1006	C=0.4364	T=0.5636
1000Genomes	South Asian	Sub	978	C=0.269	T=0.731
1000Genomes	American	Sub	694	C=0.395	T=0.605
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4819	T=0.5181
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4458	T=0.5542
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4258	T=0.5742
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.1406	T=0.8594
HGDP-CEPH-db Supplement 1	Global	Study-wide	2038	C=0.2694	T=0.7306
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	458	C=0.179	T=0.821
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	402	C=0.269	T=0.731
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	C=0.282	T=0.718
HGDP-CEPH-db Supplement 1	Europe	Sub	312	C=0.455	T=0.545
HGDP-CEPH-db Supplement 1	Africa	Sub	240	C=0.075	T=0.925
HGDP-CEPH-db Supplement 1	America	Sub	206	C=0.471	T=0.529
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.06	T=0.94
HapMap	Global	Study-wide	1668	C=0.1799	T=0.8201
HapMap	African	Sub	690	C=0.101	T=0.899
HapMap	American	Sub	560	C=0.250	T=0.750
HapMap	Asian	Sub	250	C=0.144	T=0.856
HapMap	Europe	Sub	168	C=0.321	T=0.679
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.2989	T=0.7011
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.291	T=0.709
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.257	T=0.743
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	C=0.300	T=0.700
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.398	T=0.602
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.30	T=0.70
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.31	T=0.69
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.424	T=0.576
CNV burdens in cranial meningiomas	Global	Study-wide	786	C=0.128	T=0.872
CNV burdens in cranial meningiomas	CRM	Sub	786	C=0.128	T=0.872
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.135	T=0.865
Northern Sweden	ACPOP	Study-wide	600	C=0.493	T=0.507
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.425	T=0.575
SGDP_PRJ	Global	Study-wide	504	C=0.204	T=0.796
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.576	T=0.424
Qatari	Global	Study-wide	216	C=0.319	T=0.681
Siberian	Global	Study-wide	46	C=0.35	T=0.65
The Danish reference pan genome	Danish	Study-wide	40	C=0.55	T=0.45
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	34	C=0.29	T=0.71

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 15	NC_000015.10:g.61967438C>T
GRCh37.p13 chr 15	NC_000015.9:g.62259637C>T
VPS13C RefSeqGene	NG_027782.1:g.98028G>A

Gene: VPS13C, vacuolar protein sorting 13 homolog C (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
VPS13C transcript variant 1A	NM_017684.5:c.2792G>A	R [AGG] > K [AAG]	Coding Sequence Variant
intermembrane lipid transfer protein VPS13C isoform 1A	NP_060154.3:p.Arg931Lys	R (Arg) > K (Lys)	Missense Variant
VPS13C transcript variant 2A	NM_020821.3:c.2921G>A	R [AGG] > K [AAG]	Coding Sequence Variant
intermembrane lipid transfer protein VPS13C isoform 2A	NP_065872.1:p.Arg974Lys	R (Arg) > K (Lys)	Missense Variant
VPS13C transcript variant 2B	NM_001018088.3:c.2921G>A	R [AGG] > K [AAG]	Coding Sequence Variant
intermembrane lipid transfer protein VPS13C isoform 2B	NP_001018098.1:p.Arg974Lys	R (Arg) > K (Lys)	Missense Variant
VPS13C transcript variant 1B	NM_018080.4:c.2792G>A	R [AGG] > K [AAG]	Coding Sequence Variant
intermembrane lipid transfer protein VPS13C isoform 1B	NP_060550.2:p.Arg931Lys	R (Arg) > K (Lys)	Missense Variant
VPS13C transcript variant X2	XM_047432741.1:c.2921G>A	R [AGG] > K [AAG]	Coding Sequence Variant
intermembrane lipid transfer protein VPS13C isoform X1	XP_047288697.1:p.Arg974Lys	R (Arg) > K (Lys)	Missense Variant
VPS13C transcript variant X3	XM_011521713.4:c.2921G>A	R [AGG] > K [AAG]	Coding Sequence Variant
intermembrane lipid transfer protein VPS13C isoform X1	XP_011520015.1:p.Arg974Lys	R (Arg) > K (Lys)	Missense Variant
VPS13C transcript variant X4	XM_011521714.3:c.2921G>A	R [AGG] > K [AAG]	Coding Sequence Variant
intermembrane lipid transfer protein VPS13C isoform X2	XP_011520016.1:p.Arg974Lys	R (Arg) > K (Lys)	Missense Variant
VPS13C transcript variant X5	XM_047432742.1:c.2792G>A	R [AGG] > K [AAG]	Coding Sequence Variant
intermembrane lipid transfer protein VPS13C isoform X3	XP_047288698.1:p.Arg931Lys	R (Arg) > K (Lys)	Missense Variant
VPS13C transcript variant X1	XR_007064464.1:n.2994G>A	N/A	Non Coding 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: T (allele ID: 1234109 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001644236.5	not provided	Benign
RCV002243351.1	Autosomal recessive early-onset Parkinson disease 23	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	C=	T
GRCh38.p14 chr 15	NC_000015.10:g.61967438=	NC_000015.10:g.61967438C>T
GRCh37.p13 chr 15	NC_000015.9:g.62259637=	NC_000015.9:g.62259637C>T
VPS13C RefSeqGene	NG_027782.1:g.98028=	NG_027782.1:g.98028G>A
VPS13C transcript variant 1A	NM_017684.5:c.2792=	NM_017684.5:c.2792G>A
VPS13C transcript variant 1A	NM_017684.4:c.2792=	NM_017684.4:c.2792G>A
VPS13C transcript variant 1B	NM_018080.4:c.2792=	NM_018080.4:c.2792G>A
VPS13C transcript variant 1B	NM_018080.3:c.2792=	NM_018080.3:c.2792G>A
VPS13C transcript variant 2B	NM_001018088.3:c.2921=	NM_001018088.3:c.2921G>A
VPS13C transcript variant 2B	NM_001018088.2:c.2921=	NM_001018088.2:c.2921G>A
VPS13C transcript variant 2A	NM_020821.3:c.2921=	NM_020821.3:c.2921G>A
VPS13C transcript variant 2A	NM_020821.2:c.2921=	NM_020821.2:c.2921G>A
VPS13C transcript variant X3	XM_011521713.4:c.2921=	XM_011521713.4:c.2921G>A
VPS13C transcript variant X3	XM_011521713.3:c.2921=	XM_011521713.3:c.2921G>A
VPS13C transcript variant X3	XM_011521713.2:c.2921=	XM_011521713.2:c.2921G>A
VPS13C transcript variant X3	XM_011521713.1:c.2921=	XM_011521713.1:c.2921G>A
VPS13C transcript variant X4	XM_011521714.3:c.2921=	XM_011521714.3:c.2921G>A
VPS13C transcript variant X4	XM_011521714.2:c.2921=	XM_011521714.2:c.2921G>A
VPS13C transcript variant X4	XM_011521714.1:c.2921=	XM_011521714.1:c.2921G>A
VPS13C transcript variant X1	XR_007064464.1:n.2994=	XR_007064464.1:n.2994G>A
VPS13C transcript variant X2	XM_047432741.1:c.2921=	XM_047432741.1:c.2921G>A
VPS13C transcript variant X5	XM_047432742.1:c.2792=	XM_047432742.1:c.2792G>A
intermembrane lipid transfer protein VPS13C isoform 1A	NP_060154.3:p.Arg931=	NP_060154.3:p.Arg931Lys
intermembrane lipid transfer protein VPS13C isoform 1B	NP_060550.2:p.Arg931=	NP_060550.2:p.Arg931Lys
intermembrane lipid transfer protein VPS13C isoform 2B	NP_001018098.1:p.Arg974=	NP_001018098.1:p.Arg974Lys
intermembrane lipid transfer protein VPS13C isoform 2A	NP_065872.1:p.Arg974=	NP_065872.1:p.Arg974Lys
intermembrane lipid transfer protein VPS13C isoform X1	XP_011520015.1:p.Arg974=	XP_011520015.1:p.Arg974Lys
intermembrane lipid transfer protein VPS13C isoform X2	XP_011520016.1:p.Arg974=	XP_011520016.1:p.Arg974Lys
intermembrane lipid transfer protein VPS13C isoform X1	XP_047288697.1:p.Arg974=	XP_047288697.1:p.Arg974Lys
intermembrane lipid transfer protein VPS13C isoform X3	XP_047288698.1:p.Arg931=	XP_047288698.1:p.Arg931Lys

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#.

168 SubSNP, 29 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss4970990	Aug 28, 2002 (107)
2	WI_SSAHASNP	ss6588489	Feb 20, 2003 (111)
3	PERLEGEN	ss24719040	Sep 20, 2004 (123)
4	ABI	ss43709137	Mar 13, 2006 (126)
5	APPLERA_GI	ss48426574	Mar 13, 2006 (126)
6	ILLUMINA	ss66585427	Nov 30, 2006 (127)
7	ILLUMINA	ss67302867	Nov 30, 2006 (127)
8	ILLUMINA	ss67707799	Nov 30, 2006 (127)
9	PERLEGEN	ss69178941	May 17, 2007 (127)
10	ILLUMINA	ss70781518	May 24, 2008 (130)
11	ILLUMINA	ss71357988	May 17, 2007 (127)
12	AFFY	ss74810890	Aug 16, 2007 (128)
13	ILLUMINA	ss74917358	Dec 06, 2007 (129)
14	ILLUMINA	ss79167109	Dec 14, 2007 (130)
15	HGSV	ss83861724	Dec 14, 2007 (130)
16	KRIBB_YJKIM	ss84183057	Dec 14, 2007 (130)
17	HGSV	ss84711546	Dec 14, 2007 (130)
18	HGSV	ss85743992	Dec 14, 2007 (130)
19	HGSV	ss85948120	Dec 14, 2007 (130)
20	BCMHGSC_JDW	ss90183648	Mar 24, 2008 (129)
21	HUMANGENOME_JCVI	ss96817338	Feb 04, 2009 (130)
22	BGI	ss106435177	Feb 04, 2009 (130)
23	1000GENOMES	ss108880695	Jan 23, 2009 (130)
24	1000GENOMES	ss114287434	Jan 25, 2009 (130)
25	ILLUMINA-UK	ss118256760	Feb 14, 2009 (130)
26	ILLUMINA	ss122222118	Dec 01, 2009 (131)
27	ENSEMBL	ss132411195	Dec 01, 2009 (131)
28	ENSEMBL	ss136385582	Dec 01, 2009 (131)
29	ILLUMINA	ss154268995	Dec 01, 2009 (131)
30	GMI	ss156635608	Dec 01, 2009 (131)
31	ILLUMINA	ss159445771	Dec 01, 2009 (131)
32	SEATTLESEQ	ss159730844	Dec 01, 2009 (131)
33	ILLUMINA	ss160641467	Dec 01, 2009 (131)
34	COMPLETE_GENOMICS	ss169700059	Jul 04, 2010 (132)
35	ILLUMINA	ss171654159	Jul 04, 2010 (132)
36	ILLUMINA	ss173638214	Jul 04, 2010 (132)
37	BUSHMAN	ss200938175	Jul 04, 2010 (132)
38	1000GENOMES	ss226933568	Jul 14, 2010 (132)
39	1000GENOMES	ss236807640	Jul 15, 2010 (132)
40	1000GENOMES	ss243189805	Jul 15, 2010 (132)
41	GMI	ss282287442	May 04, 2012 (137)
42	PJP	ss291736248	May 09, 2011 (134)
43	NHLBI-ESP	ss342405452	May 09, 2011 (134)
44	ILLUMINA	ss410814729	Sep 17, 2011 (135)
45	ILLUMINA	ss481780574	Sep 08, 2015 (146)
46	ILLUMINA	ss483076994	May 04, 2012 (137)
47	ILLUMINA	ss483418407	May 04, 2012 (137)
48	1000GENOMES	ss491085155	May 04, 2012 (137)
49	EXOME_CHIP	ss491495594	May 04, 2012 (137)
50	CLINSEQ_SNP	ss491702056	May 04, 2012 (137)
51	ILLUMINA	ss535212611	Sep 08, 2015 (146)
52	TISHKOFF	ss564527563	Apr 25, 2013 (138)
53	SSMP	ss660258775	Apr 25, 2013 (138)
54	ILLUMINA	ss779402462	Sep 08, 2015 (146)
55	ILLUMINA	ss780709544	Sep 08, 2015 (146)
56	ILLUMINA	ss781981934	Sep 08, 2015 (146)
57	ILLUMINA	ss783384286	Sep 08, 2015 (146)
58	ILLUMINA	ss825497627	Jul 19, 2016 (147)
59	ILLUMINA	ss832957333	Aug 21, 2014 (142)
60	ILLUMINA	ss833548162	Aug 21, 2014 (142)
61	ILLUMINA	ss834871389	Sep 08, 2015 (146)
62	JMKIDD_LAB	ss974491592	Aug 21, 2014 (142)
63	EVA-GONL	ss991865684	Aug 21, 2014 (142)
64	JMKIDD_LAB	ss1067553218	Aug 21, 2014 (142)
65	JMKIDD_LAB	ss1080187841	Aug 21, 2014 (142)
66	1000GENOMES	ss1353774310	Aug 21, 2014 (142)
67	HAMMER_LAB	ss1397699624	Sep 08, 2015 (146)
68	DDI	ss1427650579	Apr 01, 2015 (144)
69	EVA_GENOME_DK	ss1577663060	Apr 01, 2015 (144)
70	EVA_FINRISK	ss1584094515	Apr 01, 2015 (144)
71	EVA_UK10K_ALSPAC	ss1633164416	Apr 01, 2015 (144)
72	EVA_UK10K_TWINSUK	ss1676158449	Apr 01, 2015 (144)
73	EVA_EXAC	ss1691865841	Apr 01, 2015 (144)
74	EVA_DECODE	ss1695887157	Apr 01, 2015 (144)
75	EVA_MGP	ss1711399912	Apr 01, 2015 (144)
76	EVA_SVP	ss1713496170	Apr 01, 2015 (144)
77	ILLUMINA	ss1752166901	Sep 08, 2015 (146)
78	HAMMER_LAB	ss1808239272	Sep 08, 2015 (146)
79	ILLUMINA	ss1917897395	Feb 12, 2016 (147)
80	WEILL_CORNELL_DGM	ss1935272808	Feb 12, 2016 (147)
81	ILLUMINA	ss1946395851	Feb 12, 2016 (147)
82	ILLUMINA	ss1959618688	Feb 12, 2016 (147)
83	GENOMED	ss1968127948	Jul 19, 2016 (147)
84	JJLAB	ss2028416363	Sep 14, 2016 (149)
85	USC_VALOUEV	ss2156821124	Dec 20, 2016 (150)
86	HUMAN_LONGEVITY	ss2207425258	Dec 20, 2016 (150)
87	SYSTEMSBIOZJU	ss2628703841	Nov 08, 2017 (151)
88	ILLUMINA	ss2633239941	Nov 08, 2017 (151)
89	ILLUMINA	ss2633239942	Nov 08, 2017 (151)
90	GRF	ss2701295575	Nov 08, 2017 (151)
91	GNOMAD	ss2741302664	Nov 08, 2017 (151)
92	GNOMAD	ss2749321638	Nov 08, 2017 (151)
93	GNOMAD	ss2935780509	Nov 08, 2017 (151)
94	AFFY	ss2985677619	Nov 08, 2017 (151)
95	SWEGEN	ss3013406682	Nov 08, 2017 (151)
96	ILLUMINA	ss3021640395	Nov 08, 2017 (151)
97	EVA_SAMSUNG_MC	ss3023069136	Nov 08, 2017 (151)
98	BIOINF_KMB_FNS_UNIBA	ss3028032777	Nov 08, 2017 (151)
99	CSHL	ss3351151266	Nov 08, 2017 (151)
100	ILLUMINA	ss3627379507	Oct 12, 2018 (152)
101	ILLUMINA	ss3627379508	Oct 12, 2018 (152)
102	ILLUMINA	ss3631232009	Oct 12, 2018 (152)
103	ILLUMINA	ss3634610469	Oct 12, 2018 (152)
104	ILLUMINA	ss3636300505	Oct 12, 2018 (152)
105	ILLUMINA	ss3638090182	Oct 12, 2018 (152)
106	ILLUMINA	ss3639058220	Oct 12, 2018 (152)
107	ILLUMINA	ss3639534456	Oct 12, 2018 (152)
108	ILLUMINA	ss3640317790	Oct 12, 2018 (152)
109	ILLUMINA	ss3643074088	Oct 12, 2018 (152)
110	ILLUMINA	ss3644648952	Oct 12, 2018 (152)
111	OMUKHERJEE_ADBS	ss3646475567	Oct 12, 2018 (152)
112	URBANLAB	ss3650371960	Oct 12, 2018 (152)
113	ILLUMINA	ss3652041534	Oct 12, 2018 (152)
114	EGCUT_WGS	ss3680553162	Jul 13, 2019 (153)
115	EVA_DECODE	ss3698043145	Jul 13, 2019 (153)
116	ILLUMINA	ss3725506365	Jul 13, 2019 (153)
117	ACPOP	ss3740991120	Jul 13, 2019 (153)
118	ILLUMINA	ss3744421248	Jul 13, 2019 (153)
119	ILLUMINA	ss3744910994	Jul 13, 2019 (153)
120	EVA	ss3753182278	Jul 13, 2019 (153)
121	PAGE_CC	ss3771835267	Jul 13, 2019 (153)
122	ILLUMINA	ss3772409631	Jul 13, 2019 (153)
123	PACBIO	ss3787869440	Jul 13, 2019 (153)
124	PACBIO	ss3792878220	Jul 13, 2019 (153)
125	PACBIO	ss3797762809	Jul 13, 2019 (153)
126	KHV_HUMAN_GENOMES	ss3818498564	Jul 13, 2019 (153)
127	EVA	ss3824927109	Apr 27, 2020 (154)
128	EVA	ss3825529952	Apr 27, 2020 (154)
129	EVA	ss3825544898	Apr 27, 2020 (154)
130	EVA	ss3825860725	Apr 27, 2020 (154)
131	EVA	ss3834274720	Apr 27, 2020 (154)
132	EVA	ss3840736232	Apr 27, 2020 (154)
133	EVA	ss3846225375	Apr 27, 2020 (154)
134	HGDP	ss3847526433	Apr 27, 2020 (154)
135	SGDP_PRJ	ss3883078164	Apr 27, 2020 (154)
136	KRGDB	ss3932263682	Apr 27, 2020 (154)
137	FSA-LAB	ss3984074850	Apr 27, 2021 (155)
138	EVA	ss3984702629	Apr 27, 2021 (155)
139	EVA	ss3985721623	Apr 27, 2021 (155)
140	EVA	ss3986067513	Apr 27, 2021 (155)
141	EVA	ss3986651368	Apr 27, 2021 (155)
142	EVA	ss4017705968	Apr 27, 2021 (155)
143	TOPMED	ss4994097431	Apr 27, 2021 (155)
144	TOMMO_GENOMICS	ss5216547011	Apr 27, 2021 (155)
145	EVA	ss5236924451	Apr 27, 2021 (155)
146	EVA	ss5237230318	Apr 27, 2021 (155)
147	1000G_HIGH_COVERAGE	ss5298710878	Oct 16, 2022 (156)
148	EVA	ss5315790530	Oct 16, 2022 (156)
149	EVA	ss5419729168	Oct 16, 2022 (156)
150	HUGCELL_USP	ss5492413446	Oct 16, 2022 (156)
151	EVA	ss5511457664	Oct 16, 2022 (156)
152	1000G_HIGH_COVERAGE	ss5600250189	Oct 16, 2022 (156)
153	EVA	ss5623964686	Oct 16, 2022 (156)
154	EVA	ss5624053749	Oct 16, 2022 (156)
155	SANFORD_IMAGENETICS	ss5624362616	Oct 16, 2022 (156)
156	SANFORD_IMAGENETICS	ss5657664657	Oct 16, 2022 (156)
157	TOMMO_GENOMICS	ss5770454693	Oct 16, 2022 (156)
158	EVA	ss5800194097	Oct 16, 2022 (156)
159	YY_MCH	ss5815402791	Oct 16, 2022 (156)
160	EVA	ss5828306591	Oct 16, 2022 (156)
161	EVA	ss5847450144	Oct 16, 2022 (156)
162	EVA	ss5847745991	Oct 16, 2022 (156)
163	EVA	ss5848404085	Oct 16, 2022 (156)
164	EVA	ss5851326494	Oct 16, 2022 (156)
165	EVA	ss5936560545	Oct 16, 2022 (156)
166	EVA	ss5949073269	Oct 16, 2022 (156)
167	EVA	ss5979463741	Oct 16, 2022 (156)
168	EVA	ss5981290068	Oct 16, 2022 (156)
169	1000Genomes	NC_000015.9 - 62259637	Oct 12, 2018 (152)
170	1000Genomes_30x	NC_000015.10 - 61967438	Oct 16, 2022 (156)
171	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 62259637	Oct 12, 2018 (152)
172	Genome-wide autozygosity in Daghestan	NC_000015.8 - 60046929	Apr 27, 2020 (154)
173	Genetic variation in the Estonian population	NC_000015.9 - 62259637	Oct 12, 2018 (152)
174	ExAC	NC_000015.9 - 62259637	Oct 12, 2018 (152)
175	FINRISK	NC_000015.9 - 62259637	Apr 27, 2020 (154)
176	The Danish reference pan genome	NC_000015.9 - 62259637	Apr 27, 2020 (154)
177	gnomAD - Genomes	NC_000015.10 - 61967438	Apr 27, 2021 (155)
178	gnomAD - Exomes	NC_000015.9 - 62259637	Jul 13, 2019 (153)
179	GO Exome Sequencing Project	NC_000015.9 - 62259637	Oct 12, 2018 (152)
180	Genome of the Netherlands Release 5	NC_000015.9 - 62259637	Apr 27, 2020 (154)
181	HGDP-CEPH-db Supplement 1	NC_000015.8 - 60046929	Apr 27, 2020 (154)
182	HapMap	NC_000015.10 - 61967438	Apr 27, 2020 (154)
183	KOREAN population from KRGDB	NC_000015.9 - 62259637	Apr 27, 2020 (154)
184	Medical Genome Project healthy controls from Spanish population	NC_000015.9 - 62259637	Apr 27, 2020 (154)
185	Northern Sweden	NC_000015.9 - 62259637	Jul 13, 2019 (153)
186	The PAGE Study	NC_000015.10 - 61967438	Jul 13, 2019 (153)
187	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 62259637	Apr 27, 2021 (155)
188	CNV burdens in cranial meningiomas	NC_000015.9 - 62259637	Apr 27, 2021 (155)
189	Qatari	NC_000015.9 - 62259637	Apr 27, 2020 (154)
190	SGDP_PRJ	NC_000015.9 - 62259637	Apr 27, 2020 (154)
191	Siberian	NC_000015.9 - 62259637	Apr 27, 2020 (154)
192	8.3KJPN	NC_000015.9 - 62259637	Apr 27, 2021 (155)
193	14KJPN	NC_000015.10 - 61967438	Oct 16, 2022 (156)
194	TopMed	NC_000015.10 - 61967438	Apr 27, 2021 (155)
195	UK 10K study - Twins	NC_000015.9 - 62259637	Oct 12, 2018 (152)
196	A Vietnamese Genetic Variation Database	NC_000015.9 - 62259637	Jul 13, 2019 (153)
197	ALFA	NC_000015.10 - 61967438	Apr 27, 2021 (155)
198	ClinVar	RCV001644236.5	Oct 16, 2022 (156)
199	ClinVar	RCV002243351.1	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)
rs17271277	Oct 08, 2004 (123)
rs52818014	Sep 21, 2007 (128)
rs57842846	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
169771, 204325, ss83861724, ss84711546, ss85743992, ss85948120, ss90183648, ss108880695, ss114287434, ss118256760, ss169700059, ss200938175, ss282287442, ss291736248, ss483418407, ss491702056, ss825497627, ss1397699624, ss1695887157, ss1713496170, ss3639058220, ss3639534456, ss3643074088, ss3847526433	NC_000015.8:60046928:C:T	NC_000015.10:61967437:C:T	(self)
66856905, 37118893, 26291410, 2242489, 90976, 3889461, 10570624, 1384378, 16572194, 39441076, 515672, 14275985, 947550, 252151, 17314738, 35095144, 9337478, 74516318, 37118893, 8259076, ss226933568, ss236807640, ss243189805, ss342405452, ss481780574, ss483076994, ss491085155, ss491495594, ss535212611, ss564527563, ss660258775, ss779402462, ss780709544, ss781981934, ss783384286, ss832957333, ss833548162, ss834871389, ss974491592, ss991865684, ss1067553218, ss1080187841, ss1353774310, ss1427650579, ss1577663060, ss1584094515, ss1633164416, ss1676158449, ss1691865841, ss1711399912, ss1752166901, ss1808239272, ss1917897395, ss1935272808, ss1946395851, ss1959618688, ss1968127948, ss2028416363, ss2156821124, ss2628703841, ss2633239941, ss2633239942, ss2701295575, ss2741302664, ss2749321638, ss2935780509, ss2985677619, ss3013406682, ss3021640395, ss3023069136, ss3351151266, ss3627379507, ss3627379508, ss3631232009, ss3634610469, ss3636300505, ss3638090182, ss3640317790, ss3644648952, ss3646475567, ss3652041534, ss3680553162, ss3740991120, ss3744421248, ss3744910994, ss3753182278, ss3772409631, ss3787869440, ss3792878220, ss3797762809, ss3824927109, ss3825529952, ss3825544898, ss3825860725, ss3834274720, ss3840736232, ss3883078164, ss3932263682, ss3984074850, ss3984702629, ss3985721623, ss3986067513, ss3986651368, ss4017705968, ss5216547011, ss5315790530, ss5419729168, ss5511457664, ss5623964686, ss5624053749, ss5624362616, ss5657664657, ss5800194097, ss5828306591, ss5847450144, ss5847745991, ss5848404085, ss5936560545, ss5949073269, ss5979463741, ss5981290068	NC_000015.9:62259636:C:T	NC_000015.10:61967437:C:T	(self)
RCV001644236.5, RCV002243351.1, 87776124, 471315050, 1279934, 1056736, 104291797, 209643091, 4268420786, ss2207425258, ss3028032777, ss3650371960, ss3698043145, ss3725506365, ss3771835267, ss3818498564, ss3846225375, ss4994097431, ss5236924451, ss5237230318, ss5298710878, ss5492413446, ss5600250189, ss5770454693, ss5815402791, ss5851326494	NC_000015.10:61967437:C:T	NC_000015.10:61967437:C:T	(self)
ss4970990, ss6588489, ss24719040, ss43709137, ss48426574, ss66585427, ss67302867, ss67707799, ss69178941, ss70781518, ss71357988, ss74810890, ss74917358, ss79167109, ss84183057, ss96817338, ss106435177, ss122222118, ss132411195, ss136385582, ss154268995, ss156635608, ss159445771, ss159730844, ss160641467, ss171654159, ss173638214, ss410814729	NT_010194.17:33050193:C:T	NC_000015.10:61967437:C:T	(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 rs3784634

PMID	Title	Author	Year	Journal
27073999	Identification of VPS13C as a Galectin-12-Binding Protein That Regulates Galectin-12 Protein Stability and Adipogenesis.	Yang RY et al.	2016	PloS one
29303622	Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.	Kamble PG et al.	2017	Upsala journal of medical sciences

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

rs3784634