Name: rs1051992
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.

rs1051992

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:6319476 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.453425 (151074/333184, ALFA)
G=0.493895 (130729/264690, TOPMED)
A=0.450028 (106383/236392, GnomAD_exome) (+ 25 more)
A=0.490585 (68729/140096, GnomAD)
A=0.434981 (48730/112028, ExAC)
A=0.41669 (11774/28256, 14KJPN)
A=0.41663 (6981/16756, 8.3KJPN)
G=0.49136 (6372/12968, GO-ESP)
A=0.4806 (3078/6404, 1000G_30x)
A=0.4720 (2364/5008, 1000G)
A=0.3420 (1532/4480, Estonian)
A=0.4549 (1753/3854, ALSPAC)
A=0.4639 (1720/3708, TWINSUK)
A=0.3619 (1059/2926, KOREAN)
A=0.4670 (961/2058, HGDP_Stanford)
G=0.4989 (931/1866, HapMap)
A=0.4143 (469/1132, Daghestan)
A=0.442 (441/998, GoNL)
A=0.442 (265/600, NorthernSweden)
A=0.437 (258/591, Vietnamese)
G=0.081 (43/534, MGP)
A=0.302 (125/414, SGDP_PRJ)
A=0.412 (117/284, FINRISK)
A=0.500 (108/216, Qatari)
G=0.500 (108/216, Qatari)
G=0.42 (32/76, Ancient Sardinia)
A=0.37 (19/52, Siberian)
A=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CAVIN3 : Missense Variant
LOC101927825 : Non Coding Transcript Variant
Publications: 3 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	333398	A=0.453464	G=0.546536
European	Sub	289718	A=0.450490	G=0.549510
African	Sub	10342	A=0.59466	G=0.40534
African Others	Sub	370	A=0.646	G=0.354
African American	Sub	9972	A=0.5928	G=0.4072
Asian	Sub	6390	A=0.3659	G=0.6341
East Asian	Sub	4528	A=0.3514	G=0.6486
Other Asian	Sub	1862	A=0.4012	G=0.5988
Latin American 1	Sub	1212	A=0.4884	G=0.5116
Latin American 2	Sub	1596	A=0.5194	G=0.4806
South Asian	Sub	5170	A=0.3961	G=0.6039
Other	Sub	18970	A=0.45925	G=0.54075

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	333184	A=0.453425	G=0.546575
Allele Frequency Aggregator	European	Sub	289540	A=0.450456	G=0.549544
Allele Frequency Aggregator	Other	Sub	18948	A=0.45920	G=0.54080
Allele Frequency Aggregator	African	Sub	10328	A=0.59460	G=0.40540
Allele Frequency Aggregator	Asian	Sub	6390	A=0.3659	G=0.6341
Allele Frequency Aggregator	South Asian	Sub	5170	A=0.3961	G=0.6039
Allele Frequency Aggregator	Latin American 2	Sub	1596	A=0.5194	G=0.4806
Allele Frequency Aggregator	Latin American 1	Sub	1212	A=0.4884	G=0.5116
TopMed	Global	Study-wide	264690	A=0.506105	G=0.493895
gnomAD - Exomes	Global	Study-wide	236392	A=0.450028	G=0.549972
gnomAD - Exomes	European	Sub	124436	A=0.432897	G=0.567103
gnomAD - Exomes	Asian	Sub	47928	A=0.37312	G=0.62688
gnomAD - Exomes	American	Sub	33792	A=0.54451	G=0.45549
gnomAD - Exomes	African	Sub	14750	A=0.61146	G=0.38854
gnomAD - Exomes	Ashkenazi Jewish	Sub	9658	A=0.4734	G=0.5266
gnomAD - Exomes	Other	Sub	5828	A=0.4532	G=0.5468
gnomAD - Genomes	Global	Study-wide	140096	A=0.490585	G=0.509415
gnomAD - Genomes	European	Sub	75864	A=0.43442	G=0.56558
gnomAD - Genomes	African	Sub	41986	A=0.60463	G=0.39537
gnomAD - Genomes	American	Sub	13648	A=0.49179	G=0.50821
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	A=0.4599	G=0.5401
gnomAD - Genomes	East Asian	Sub	3130	A=0.3473	G=0.6527
gnomAD - Genomes	Other	Sub	2150	A=0.4935	G=0.5065
ExAC	Global	Study-wide	112028	A=0.434981	G=0.565019
ExAC	Europe	Sub	67598	A=0.42167	G=0.57833
ExAC	Asian	Sub	24024	A=0.36792	G=0.63208
ExAC	American	Sub	11006	A=0.54761	G=0.45239
ExAC	African	Sub	8576	A=0.5838	G=0.4162
ExAC	Other	Sub	824	A=0.428	G=0.572
14KJPN	JAPANESE	Study-wide	28256	A=0.41669	G=0.58331
8.3KJPN	JAPANESE	Study-wide	16756	A=0.41663	G=0.58337
GO Exome Sequencing Project	Global	Study-wide	12968	A=0.50864	G=0.49136
GO Exome Sequencing Project	European American	Sub	8580	A=0.4597	G=0.5403
GO Exome Sequencing Project	African American	Sub	4388	A=0.6044	G=0.3956
1000Genomes_30x	Global	Study-wide	6404	A=0.4806	G=0.5194
1000Genomes_30x	African	Sub	1786	A=0.6232	G=0.3768
1000Genomes_30x	Europe	Sub	1266	A=0.4250	G=0.5750
1000Genomes_30x	South Asian	Sub	1202	A=0.3960	G=0.6040
1000Genomes_30x	East Asian	Sub	1170	A=0.3701	G=0.6299
1000Genomes_30x	American	Sub	980	A=0.529	G=0.471
1000Genomes	Global	Study-wide	5008	A=0.4720	G=0.5280
1000Genomes	African	Sub	1322	A=0.6127	G=0.3873
1000Genomes	East Asian	Sub	1008	A=0.3770	G=0.6230
1000Genomes	Europe	Sub	1006	A=0.4195	G=0.5805
1000Genomes	South Asian	Sub	978	A=0.395	G=0.605
1000Genomes	American	Sub	694	A=0.527	G=0.473
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.3420	G=0.6580
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4549	G=0.5451
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4639	G=0.5361
KOREAN population from KRGDB	KOREAN	Study-wide	2926	A=0.3619	G=0.6381, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2058	A=0.4670	G=0.5330
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	466	A=0.367	G=0.633
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	404	A=0.406	G=0.594
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	344	A=0.456	G=0.544
HGDP-CEPH-db Supplement 1	Europe	Sub	316	A=0.446	G=0.554
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.674	G=0.326
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.500	G=0.500
HGDP-CEPH-db Supplement 1	Oceania	Sub	70	A=0.81	G=0.19
HapMap	Global	Study-wide	1866	A=0.5011	G=0.4989
HapMap	American	Sub	750	A=0.456	G=0.544
HapMap	African	Sub	690	A=0.607	G=0.393
HapMap	Asian	Sub	252	A=0.385	G=0.615
HapMap	Europe	Sub	174	A=0.443	G=0.557
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	A=0.4143	G=0.5857
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.419	G=0.581
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	A=0.507	G=0.493
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.336	G=0.664
Genome-wide autozygosity in Daghestan	Europe	Sub	106	A=0.443	G=0.557
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.32	G=0.68
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.42	G=0.58
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.442	G=0.558
Northern Sweden	ACPOP	Study-wide	600	A=0.442	G=0.558
A Vietnamese Genetic Variation Database	Global	Study-wide	591	A=0.437	G=0.563
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.919	G=0.081
SGDP_PRJ	Global	Study-wide	414	A=0.302	G=0.698
FINRISK	Finnish from FINRISK project	Study-wide	284	A=0.412	G=0.588
Qatari	Global	Study-wide	216	A=0.500	G=0.500
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	76	A=0.58	G=0.42
Siberian	Global	Study-wide	52	A=0.37	G=0.63
The Danish reference pan genome	Danish	Study-wide	40	A=0.25	G=0.75

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 11	NC_000011.10:g.6319476A>G
GRCh38.p14 chr 11	NC_000011.10:g.6319476A>T
GRCh37.p13 chr 11	NC_000011.9:g.6340706A>G
GRCh37.p13 chr 11	NC_000011.9:g.6340706A>T

Gene: CAVIN3, caveolae associated protein 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CAVIN3 transcript	NM_145040.3:c.473T>C	L [CTG] > P [CCG]	Coding Sequence Variant
caveolae-associated protein 3	NP_659477.2:p.Leu158Pro	L (Leu) > P (Pro)	Missense Variant
CAVIN3 transcript	NM_145040.3:c.473T>A	L [CTG] > Q [CAG]	Coding Sequence Variant
caveolae-associated protein 3	NP_659477.2:p.Leu158Gln	L (Leu) > Q (Gln)	Missense Variant

Gene: LOC101927825, uncharacterized LOC101927825 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101927825 transcript variant X2	XR_242848.4:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X2	XR_242848.4:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X1	XR_001748108.3:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X1	XR_001748108.3:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X3	XR_007062566.1:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X3	XR_007062566.1:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X4	XR_001748109.3:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X4	XR_001748109.3:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X5	XR_007062567.1:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X5	XR_007062567.1:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X6	XR_007062568.1:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X6	XR_007062568.1:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X7	XR_930992.4:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X7	XR_930992.4:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X8	XR_007062569.1:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X8	XR_007062569.1:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X9	XR_001748105.3:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X9	XR_001748105.3:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X10	XR_930998.4:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X10	XR_930998.4:n.336A>T	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X11	XR_007062570.1:n.336A>G	N/A	Non Coding Transcript Variant
LOC101927825 transcript variant X11	XR_007062570.1:n.336A>T	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.

Not Reported in ClinVar

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	A=	G	T
GRCh38.p14 chr 11	NC_000011.10:g.6319476=	NC_000011.10:g.6319476A>G	NC_000011.10:g.6319476A>T
GRCh37.p13 chr 11	NC_000011.9:g.6340706=	NC_000011.9:g.6340706A>G	NC_000011.9:g.6340706A>T
LOC101927825 transcript variant X7	XR_930992.4:n.336=	XR_930992.4:n.336A>G	XR_930992.4:n.336A>T
LOC101927825 transcript variant X10	XR_930998.4:n.336=	XR_930998.4:n.336A>G	XR_930998.4:n.336A>T
LOC101927825 transcript variant X2	XR_242848.4:n.336=	XR_242848.4:n.336A>G	XR_242848.4:n.336A>T
LOC101927825 transcript variant X1	XR_001748108.3:n.336=	XR_001748108.3:n.336A>G	XR_001748108.3:n.336A>T
LOC101927825 transcript variant X4	XR_001748109.3:n.336=	XR_001748109.3:n.336A>G	XR_001748109.3:n.336A>T
LOC101927825 transcript variant X11	XR_001748109.1:n.87=	XR_001748109.1:n.87A>G	XR_001748109.1:n.87A>T
LOC101927825 transcript variant X9	XR_001748105.3:n.336=	XR_001748105.3:n.336A>G	XR_001748105.3:n.336A>T
CAVIN3 transcript	NM_145040.3:c.473=	NM_145040.3:c.473T>C	NM_145040.3:c.473T>A
CAVIN3 transcript	NM_145040.2:c.473=	NM_145040.2:c.473T>C	NM_145040.2:c.473T>A
LOC101927825 transcript variant X5	XR_007062567.1:n.336=	XR_007062567.1:n.336A>G	XR_007062567.1:n.336A>T
LOC101927825 transcript variant X8	XR_007062569.1:n.336=	XR_007062569.1:n.336A>G	XR_007062569.1:n.336A>T
LOC101927825 transcript variant X6	XR_007062568.1:n.336=	XR_007062568.1:n.336A>G	XR_007062568.1:n.336A>T
LOC101927825 transcript variant X3	XR_007062566.1:n.336=	XR_007062566.1:n.336A>G	XR_007062566.1:n.336A>T
LOC101927825 transcript variant X11	XR_007062570.1:n.336=	XR_007062570.1:n.336A>G	XR_007062570.1:n.336A>T
caveolae-associated protein 3	NP_659477.2:p.Leu158=	NP_659477.2:p.Leu158Pro	NP_659477.2:p.Leu158Gln

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#.

167 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1527984	Oct 05, 2000 (86)
2	CGAP-GAI	ss4322784	Jan 04, 2002 (102)
3	YUSUKE	ss4989368	Aug 28, 2002 (108)
4	SC_SNP	ss16104065	Feb 27, 2004 (120)
5	PERLEGEN	ss24514153	Sep 20, 2004 (123)
6	APPLERA_GI	ss48420073	Mar 13, 2006 (126)
7	ILLUMINA	ss66763433	Nov 29, 2006 (127)
8	ILLUMINA	ss66895477	Nov 29, 2006 (127)
9	ILLUMINA	ss67004320	Nov 29, 2006 (127)
10	ILLUMINA	ss70376209	May 16, 2007 (127)
11	ILLUMINA	ss70491516	May 24, 2008 (130)
12	ILLUMINA	ss71016114	May 16, 2007 (127)
13	ILLUMINA	ss75781933	Dec 07, 2007 (129)
14	KRIBB_YJKIM	ss83674264	Dec 15, 2007 (130)
15	BCMHGSC_JDW	ss88448798	Mar 23, 2008 (129)
16	BGI	ss106718957	Feb 05, 2009 (130)
17	1000GENOMES	ss114150529	Jan 25, 2009 (130)
18	ILLUMINA	ss121367942	Dec 01, 2009 (131)
19	ILLUMINA	ss152790727	Dec 01, 2009 (131)
20	GMI	ss155877945	Dec 01, 2009 (131)
21	ILLUMINA	ss159136310	Dec 01, 2009 (131)
22	SEATTLESEQ	ss159722467	Dec 01, 2009 (131)
23	ILLUMINA	ss159909422	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss168971827	Jul 04, 2010 (132)
25	ILLUMINA	ss169557369	Jul 04, 2010 (132)
26	ILLUMINA	ss170360891	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss207895931	Jul 04, 2010 (132)
28	1000GENOMES	ss225071108	Jul 14, 2010 (132)
29	1000GENOMES	ss235431053	Jul 15, 2010 (132)
30	1000GENOMES	ss242088038	Jul 15, 2010 (132)
31	ILLUMINA	ss244269596	Jul 04, 2010 (132)
32	BL	ss254860080	May 09, 2011 (134)
33	GMI	ss280870097	May 04, 2012 (137)
34	GMI	ss286309117	Apr 25, 2013 (138)
35	PJP	ss291107444	May 09, 2011 (134)
36	NHLBI-ESP	ss342317109	May 09, 2011 (134)
37	ILLUMINA	ss479315456	May 04, 2012 (137)
38	ILLUMINA	ss479318652	May 04, 2012 (137)
39	ILLUMINA	ss479703587	Sep 08, 2015 (146)
40	ILLUMINA	ss484458037	May 04, 2012 (137)
41	1000GENOMES	ss491011578	May 04, 2012 (137)
42	EXOME_CHIP	ss491446119	May 04, 2012 (137)
43	CLINSEQ_SNP	ss491638911	May 04, 2012 (137)
44	TISHKOFF	ss562360940	Apr 25, 2013 (138)
45	SSMP	ss657720249	Apr 25, 2013 (138)
46	ILLUMINA	ss780894384	Aug 21, 2014 (142)
47	ILLUMINA	ss782675578	Sep 08, 2015 (146)
48	ILLUMINA	ss783581052	Aug 21, 2014 (142)
49	ILLUMINA	ss825345820	Apr 01, 2015 (144)
50	ILLUMINA	ss831926307	Sep 08, 2015 (146)
51	ILLUMINA	ss832648972	Jul 13, 2019 (153)
52	JMKIDD_LAB	ss974477777	Aug 21, 2014 (142)
53	EVA-GONL	ss988170084	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1067519899	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1077473094	Aug 21, 2014 (142)
56	1000GENOMES	ss1339976227	Aug 21, 2014 (142)
57	HAMMER_LAB	ss1397598449	Sep 08, 2015 (146)
58	DDI	ss1426523712	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1575498797	Apr 01, 2015 (144)
60	EVA_FINRISK	ss1584072724	Apr 01, 2015 (144)
61	EVA_DECODE	ss1597846069	Apr 01, 2015 (144)
62	EVA_UK10K_ALSPAC	ss1625914514	Apr 01, 2015 (144)
63	EVA_UK10K_TWINSUK	ss1668908547	Apr 01, 2015 (144)
64	EVA_EXAC	ss1690232729	Apr 01, 2015 (144)
65	EVA_MGP	ss1711281431	Apr 01, 2015 (144)
66	EVA_SVP	ss1713230380	Apr 01, 2015 (144)
67	ILLUMINA	ss1752025931	Sep 08, 2015 (146)
68	ILLUMINA	ss1752025932	Sep 08, 2015 (146)
69	HAMMER_LAB	ss1806676633	Sep 08, 2015 (146)
70	ILLUMINA	ss1917855693	Feb 12, 2016 (147)
71	WEILL_CORNELL_DGM	ss1931534090	Feb 12, 2016 (147)
72	ILLUMINA	ss1946301203	Feb 12, 2016 (147)
73	ILLUMINA	ss1946301204	Feb 12, 2016 (147)
74	ILLUMINA	ss1959321427	Feb 12, 2016 (147)
75	JJLAB	ss2026508056	Sep 14, 2016 (149)
76	ILLUMINA	ss2094789732	Dec 20, 2016 (150)
77	ILLUMINA	ss2095019641	Dec 20, 2016 (150)
78	USC_VALOUEV	ss2154794961	Dec 20, 2016 (150)
79	HUMAN_LONGEVITY	ss2179899366	Dec 20, 2016 (150)
80	SYSTEMSBIOZJU	ss2627723106	Nov 08, 2017 (151)
81	ILLUMINA	ss2632796001	Nov 08, 2017 (151)
82	GRF	ss2699065280	Nov 08, 2017 (151)
83	ILLUMINA	ss2710728395	Nov 08, 2017 (151)
84	GNOMAD	ss2748549142	Nov 08, 2017 (151)
85	GNOMAD	ss2895939212	Nov 08, 2017 (151)
86	AFFY	ss2984932845	Nov 08, 2017 (151)
87	SWEGEN	ss3007539281	Nov 08, 2017 (151)
88	ILLUMINA	ss3021304313	Nov 08, 2017 (151)
89	ILLUMINA	ss3021304314	Nov 08, 2017 (151)
90	EVA_SAMSUNG_MC	ss3023066389	Nov 08, 2017 (151)
91	BIOINF_KMB_FNS_UNIBA	ss3027047289	Nov 08, 2017 (151)
92	CSHL	ss3349435868	Nov 08, 2017 (151)
93	ILLUMINA	ss3625595160	Oct 12, 2018 (152)
94	ILLUMINA	ss3626591009	Oct 12, 2018 (152)
95	ILLUMINA	ss3633672593	Oct 12, 2018 (152)
96	ILLUMINA	ss3634438160	Oct 12, 2018 (152)
97	ILLUMINA	ss3634438161	Oct 12, 2018 (152)
98	ILLUMINA	ss3635364508	Oct 12, 2018 (152)
99	ILLUMINA	ss3636122687	Oct 12, 2018 (152)
100	ILLUMINA	ss3637115303	Oct 12, 2018 (152)
101	ILLUMINA	ss3637888682	Oct 12, 2018 (152)
102	ILLUMINA	ss3638959501	Oct 12, 2018 (152)
103	ILLUMINA	ss3639480235	Oct 12, 2018 (152)
104	ILLUMINA	ss3640145499	Oct 12, 2018 (152)
105	ILLUMINA	ss3640145500	Oct 12, 2018 (152)
106	ILLUMINA	ss3641010478	Oct 12, 2018 (152)
107	ILLUMINA	ss3641304857	Oct 12, 2018 (152)
108	ILLUMINA	ss3642888595	Oct 12, 2018 (152)
109	ILLUMINA	ss3644553972	Oct 12, 2018 (152)
110	ILLUMINA	ss3644553973	Oct 12, 2018 (152)
111	OMUKHERJEE_ADBS	ss3646421624	Oct 12, 2018 (152)
112	ILLUMINA	ss3651665674	Oct 12, 2018 (152)
113	ILLUMINA	ss3651665675	Oct 12, 2018 (152)
114	ILLUMINA	ss3653704438	Oct 12, 2018 (152)
115	EGCUT_WGS	ss3674935326	Jul 13, 2019 (153)
116	EVA_DECODE	ss3691145183	Jul 13, 2019 (153)
117	ACPOP	ss3737888424	Jul 13, 2019 (153)
118	ILLUMINA	ss3744080115	Jul 13, 2019 (153)
119	ILLUMINA	ss3744376199	Jul 13, 2019 (153)
120	ILLUMINA	ss3744739076	Jul 13, 2019 (153)
121	ILLUMINA	ss3744739077	Jul 13, 2019 (153)
122	EVA	ss3748898826	Jul 13, 2019 (153)
123	ILLUMINA	ss3772239208	Jul 13, 2019 (153)
124	ILLUMINA	ss3772239209	Jul 13, 2019 (153)
125	PACBIO	ss3786855729	Jul 13, 2019 (153)
126	PACBIO	ss3792010725	Jul 13, 2019 (153)
127	PACBIO	ss3796892749	Jul 13, 2019 (153)
128	KHV_HUMAN_GENOMES	ss3814248094	Jul 13, 2019 (153)
129	EVA	ss3824588545	Apr 26, 2020 (154)
130	EVA	ss3825527242	Apr 26, 2020 (154)
131	EVA	ss3825542702	Apr 26, 2020 (154)
132	EVA	ss3825791720	Apr 26, 2020 (154)
133	EVA	ss3832458490	Apr 26, 2020 (154)
134	EVA	ss3839774682	Apr 26, 2020 (154)
135	EVA	ss3845250822	Apr 26, 2020 (154)
136	HGDP	ss3847408024	Apr 26, 2020 (154)
137	SGDP_PRJ	ss3875573485	Apr 26, 2020 (154)
138	KRGDB	ss3923797016	Apr 26, 2020 (154)
139	FSA-LAB	ss3983995326	Apr 26, 2021 (155)
140	EVA	ss3984645404	Apr 26, 2021 (155)
141	EVA	ss3984645405	Apr 26, 2021 (155)
142	EVA	ss3985515575	Apr 26, 2021 (155)
143	EVA	ss3986513419	Apr 26, 2021 (155)
144	EVA	ss4017521164	Apr 26, 2021 (155)
145	TOPMED	ss4873988395	Apr 26, 2021 (155)
146	TOMMO_GENOMICS	ss5200529573	Apr 26, 2021 (155)
147	EVA	ss5236891079	Apr 26, 2021 (155)
148	1000G_HIGH_COVERAGE	ss5286282534	Oct 16, 2022 (156)
149	EVA	ss5315523535	Oct 16, 2022 (156)
150	EVA	ss5397518459	Oct 16, 2022 (156)
151	HUGCELL_USP	ss5481597865	Oct 16, 2022 (156)
152	EVA	ss5510239205	Oct 16, 2022 (156)
153	1000G_HIGH_COVERAGE	ss5581342931	Oct 16, 2022 (156)
154	EVA	ss5624017192	Oct 16, 2022 (156)
155	SANFORD_IMAGENETICS	ss5650567391	Oct 16, 2022 (156)
156	TOMMO_GENOMICS	ss5747239952	Oct 16, 2022 (156)
157	EVA	ss5800165686	Oct 16, 2022 (156)
158	YY_MCH	ss5812098560	Oct 16, 2022 (156)
159	EVA	ss5836214135	Oct 16, 2022 (156)
160	EVA	ss5847620931	Oct 16, 2022 (156)
161	EVA	ss5848317033	Oct 16, 2022 (156)
162	EVA	ss5849843164	Oct 16, 2022 (156)
163	EVA	ss5918688196	Oct 16, 2022 (156)
164	EVA	ss5936547385	Oct 16, 2022 (156)
165	EVA	ss5941869867	Oct 16, 2022 (156)
166	EVA	ss5980657623	Oct 16, 2022 (156)
167	EVA	ss5981265474	Oct 16, 2022 (156)
168	1000Genomes	NC_000011.9 - 6340706	Oct 12, 2018 (152)
169	1000Genomes_30x	NC_000011.10 - 6319476	Oct 16, 2022 (156)
170	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 6340706	Oct 12, 2018 (152)
171	Genome-wide autozygosity in Daghestan	NC_000011.8 - 6297282	Apr 26, 2020 (154)
172	Genetic variation in the Estonian population	NC_000011.9 - 6340706	Oct 12, 2018 (152)
173	ExAC	NC_000011.9 - 6340706	Oct 12, 2018 (152)
174	FINRISK	NC_000011.9 - 6340706	Apr 26, 2020 (154)
175	The Danish reference pan genome	NC_000011.9 - 6340706	Apr 26, 2020 (154)
176	gnomAD - Genomes	NC_000011.10 - 6319476	Apr 26, 2021 (155)
177	gnomAD - Exomes	NC_000011.9 - 6340706	Jul 13, 2019 (153)
178	GO Exome Sequencing Project	NC_000011.9 - 6340706	Oct 12, 2018 (152)
179	Genome of the Netherlands Release 5	NC_000011.9 - 6340706	Apr 26, 2020 (154)
180	HGDP-CEPH-db Supplement 1	NC_000011.8 - 6297282	Apr 26, 2020 (154)
181	HapMap	NC_000011.10 - 6319476	Apr 26, 2020 (154)
182	KOREAN population from KRGDB	NC_000011.9 - 6340706	Apr 26, 2020 (154)
183	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 6340706	Apr 26, 2020 (154)
184	Northern Sweden	NC_000011.9 - 6340706	Jul 13, 2019 (153)
185	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 6340706	Apr 26, 2021 (155)
186	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 194878 (NC_000011.9:6340705:A:G 536/782) Row 194879 (NC_000011.9:6340705:A:G 536/784)	-	Apr 26, 2021 (155)
187	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 194878 (NC_000011.9:6340705:A:G 536/782) Row 194879 (NC_000011.9:6340705:A:G 536/784)	-	Apr 26, 2021 (155)
188	Qatari	NC_000011.9 - 6340706	Apr 26, 2020 (154)
189	SGDP_PRJ	NC_000011.9 - 6340706	Apr 26, 2020 (154)
190	Siberian	NC_000011.9 - 6340706	Apr 26, 2020 (154)
191	8.3KJPN	NC_000011.9 - 6340706	Apr 26, 2021 (155)
192	14KJPN	NC_000011.10 - 6319476	Oct 16, 2022 (156)
193	TopMed	NC_000011.10 - 6319476	Apr 26, 2021 (155)
194	UK 10K study - Twins	NC_000011.9 - 6340706	Oct 12, 2018 (152)
195	A Vietnamese Genetic Variation Database	NC_000011.9 - 6340706	Jul 13, 2019 (153)
196	ALFA	NC_000011.10 - 6319476	Apr 26, 2021 (155)

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)
rs3802982	Oct 09, 2002 (108)
rs17240728	Oct 08, 2004 (123)
rs58428819	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
69772, 85916, ss88448798, ss114150529, ss168971827, ss207895931, ss254860080, ss280870097, ss286309117, ss291107444, ss479315456, ss491638911, ss825345820, ss1397598449, ss1597846069, ss1713230380, ss3638959501, ss3639480235, ss3642888595, ss3847408024	NC_000011.8:6297281:A:G	NC_000011.10:6319475:A:G	(self)
52454076, 29133845, 20673574, 478722, 69185, 2426812, 7964751, 1046171, 12989939, 30974410, 397191, 11173289, 741502, 13576020, 27590465, 7311315, 58498880, 29133845, 6466898, ss225071108, ss235431053, ss242088038, ss342317109, ss479318652, ss479703587, ss484458037, ss491011578, ss491446119, ss562360940, ss657720249, ss780894384, ss782675578, ss783581052, ss831926307, ss832648972, ss974477777, ss988170084, ss1067519899, ss1077473094, ss1339976227, ss1426523712, ss1575498797, ss1584072724, ss1625914514, ss1668908547, ss1690232729, ss1711281431, ss1752025931, ss1752025932, ss1806676633, ss1917855693, ss1931534090, ss1946301203, ss1946301204, ss1959321427, ss2026508056, ss2094789732, ss2095019641, ss2154794961, ss2627723106, ss2632796001, ss2699065280, ss2710728395, ss2748549142, ss2895939212, ss2984932845, ss3007539281, ss3021304313, ss3021304314, ss3023066389, ss3349435868, ss3625595160, ss3626591009, ss3633672593, ss3634438160, ss3634438161, ss3635364508, ss3636122687, ss3637115303, ss3637888682, ss3640145499, ss3640145500, ss3641010478, ss3641304857, ss3644553972, ss3644553973, ss3646421624, ss3651665674, ss3651665675, ss3653704438, ss3674935326, ss3737888424, ss3744080115, ss3744376199, ss3744739076, ss3744739077, ss3748898826, ss3772239208, ss3772239209, ss3786855729, ss3792010725, ss3796892749, ss3824588545, ss3825527242, ss3825542702, ss3825791720, ss3832458490, ss3839774682, ss3875573485, ss3923797016, ss3983995326, ss3984645404, ss3984645405, ss3985515575, ss3986513419, ss4017521164, ss5200529573, ss5315523535, ss5397518459, ss5510239205, ss5624017192, ss5650567391, ss5800165686, ss5836214135, ss5847620931, ss5848317033, ss5936547385, ss5941869867, ss5980657623, ss5981265474	NC_000011.9:6340705:A:G	NC_000011.10:6319475:A:G	(self)
68868866, 370360004, 541030, 81077056, 89534051, 13637470600, ss2179899366, ss3027047289, ss3691145183, ss3814248094, ss3845250822, ss4873988395, ss5236891079, ss5286282534, ss5481597865, ss5581342931, ss5747239952, ss5812098560, ss5849843164, ss5918688196	NC_000011.10:6319475:A:G	NC_000011.10:6319475:A:G	(self)
ss16104065	NT_009237.16:5104645:A:G	NC_000011.10:6319475:A:G	(self)
ss1527984, ss4322784, ss4989368, ss24514153, ss48420073, ss66763433, ss66895477, ss67004320, ss70376209, ss70491516, ss71016114, ss75781933, ss83674264, ss106718957, ss121367942, ss152790727, ss155877945, ss159136310, ss159722467, ss159909422, ss169557369, ss170360891, ss244269596	NT_009237.18:6280705:A:G	NC_000011.10:6319475:A:G	(self)
30974410, ss3923797016	NC_000011.9:6340705:A:T	NC_000011.10:6319475:A:T	(self)

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

3 citations for rs1051992

PMID	Title	Author	Year	Journal
23020606	Genetic polymorphism of PRKCDBP is associated with an increased risk of endometrial cancer.	Tong SY et al.	2012	Cancer investigation
23940558	Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.	Shao J et al.	2013	PloS one
26130999	Polymorphisms in PRKCDBP, a Transcriptional Target of TNF-α, Are Associated With Inflammatory Bowel Disease in Korean.	Kim JW et al.	2015	Intestinal research

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

rs1051992