Name: rs6929069
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.

rs6929069

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:7581403 (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=0.140403 (50525/359856, ALFA)
A=0.200914 (53180/264690, TOPMED)
A=0.172255 (43268/251186, GnomAD_exome) (+ 27 more)
A=0.196122 (27468/140056, GnomAD)
A=0.172408 (20880/121108, ExAC)
A=0.25290 (19902/78696, PAGE_STUDY)
A=0.17245 (4873/28258, 14KJPN)
A=0.17148 (2874/16760, 8.3KJPN)
A=0.19414 (2525/13006, GO-ESP)
A=0.2442 (1564/6404, 1000G_30x)
A=0.2404 (1204/5008, 1000G)
A=0.1125 (504/4480, Estonian)
A=0.1347 (519/3854, ALSPAC)
A=0.1405 (521/3708, TWINSUK)
A=0.1805 (529/2930, KOREAN)
A=0.2174 (453/2084, HGDP_Stanford)
A=0.2391 (450/1882, HapMap)
A=0.1640 (186/1134, Daghestan)
A=0.117 (117/998, GoNL)
A=0.214 (169/788, PRJEB37584)
A=0.190 (119/626, Chileans)
A=0.217 (133/612, Vietnamese)
A=0.083 (50/600, NorthernSweden)
A=0.137 (73/534, MGP)
A=0.178 (54/304, FINRISK)
A=0.218 (47/216, Qatari)
G=0.431 (93/216, SGDP_PRJ)
A=0.05 (4/74, Ancient Sardinia)
A=0.10 (4/40, GENOME_DK)
G=0.43 (6/14, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DSP : Missense Variant
Publications: 4 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	376336	G=0.857723	A=0.142277
European	Sub	312478	G=0.873393	A=0.126607
African	Sub	17200	G=0.67622	A=0.32378
African Others	Sub	606	G=0.660	A=0.340
African American	Sub	16594	G=0.67681	A=0.32319
Asian	Sub	6982	G=0.7982	A=0.2018
East Asian	Sub	4984	G=0.8122	A=0.1878
Other Asian	Sub	1998	G=0.7633	A=0.2367
Latin American 1	Sub	1594	G=0.7992	A=0.2008
Latin American 2	Sub	8542	G=0.8077	A=0.1923
South Asian	Sub	5236	G=0.7697	A=0.2303
Other	Sub	24304	G=0.84221	A=0.15779

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	359856	G=0.859597	A=0.140403
Allele Frequency Aggregator	European	Sub	302282	G=0.873099	A=0.126901
Allele Frequency Aggregator	Other	Sub	22854	G=0.84261	A=0.15739
Allele Frequency Aggregator	African	Sub	12366	G=0.67734	A=0.32266
Allele Frequency Aggregator	Latin American 2	Sub	8542	G=0.8077	A=0.1923
Allele Frequency Aggregator	Asian	Sub	6982	G=0.7982	A=0.2018
Allele Frequency Aggregator	South Asian	Sub	5236	G=0.7697	A=0.2303
Allele Frequency Aggregator	Latin American 1	Sub	1594	G=0.7992	A=0.2008
TopMed	Global	Study-wide	264690	G=0.799086	A=0.200914
gnomAD - Exomes	Global	Study-wide	251186	G=0.827745	A=0.172255
gnomAD - Exomes	European	Sub	135260	G=0.869710	A=0.130290
gnomAD - Exomes	Asian	Sub	48978	G=0.77866	A=0.22134
gnomAD - Exomes	American	Sub	34528	G=0.80126	A=0.19874
gnomAD - Exomes	African	Sub	16224	G=0.67049	A=0.32951
gnomAD - Exomes	Ashkenazi Jewish	Sub	10074	G=0.84257	A=0.15743
gnomAD - Exomes	Other	Sub	6122	G=0.8350	A=0.1650
gnomAD - Genomes	Global	Study-wide	140056	G=0.803878	A=0.196122
gnomAD - Genomes	European	Sub	75862	G=0.86859	A=0.13141
gnomAD - Genomes	African	Sub	41946	G=0.67735	A=0.32265
gnomAD - Genomes	American	Sub	13646	G=0.82156	A=0.17844
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.8490	A=0.1510
gnomAD - Genomes	East Asian	Sub	3126	G=0.7997	A=0.2003
gnomAD - Genomes	Other	Sub	2152	G=0.8132	A=0.1868
ExAC	Global	Study-wide	121108	G=0.827592	A=0.172408
ExAC	Europe	Sub	73176	G=0.87216	A=0.12784
ExAC	Asian	Sub	25136	G=0.78131	A=0.21869
ExAC	American	Sub	11550	G=0.78606	A=0.21394
ExAC	African	Sub	10340	G=0.67263	A=0.32737
ExAC	Other	Sub	906	G=0.810	A=0.190
The PAGE Study	Global	Study-wide	78696	G=0.74710	A=0.25290
The PAGE Study	AfricanAmerican	Sub	32514	G=0.67931	A=0.32069
The PAGE Study	Mexican	Sub	10808	G=0.79497	A=0.20503
The PAGE Study	Asian	Sub	8318	G=0.8263	A=0.1737
The PAGE Study	PuertoRican	Sub	7916	G=0.8047	A=0.1953
The PAGE Study	NativeHawaiian	Sub	4534	G=0.6573	A=0.3427
The PAGE Study	Cuban	Sub	4230	G=0.8404	A=0.1596
The PAGE Study	Dominican	Sub	3828	G=0.7795	A=0.2205
The PAGE Study	CentralAmerican	Sub	2450	G=0.8400	A=0.1600
The PAGE Study	SouthAmerican	Sub	1982	G=0.8078	A=0.1922
The PAGE Study	NativeAmerican	Sub	1260	G=0.8317	A=0.1683
The PAGE Study	SouthAsian	Sub	856	G=0.755	A=0.245
14KJPN	JAPANESE	Study-wide	28258	G=0.82755	A=0.17245
8.3KJPN	JAPANESE	Study-wide	16760	G=0.82852	A=0.17148
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.80586	A=0.19414
GO Exome Sequencing Project	European American	Sub	8600	G=0.8743	A=0.1257
GO Exome Sequencing Project	African American	Sub	4406	G=0.6723	A=0.3277
1000Genomes_30x	Global	Study-wide	6404	G=0.7558	A=0.2442
1000Genomes_30x	African	Sub	1786	G=0.6170	A=0.3830
1000Genomes_30x	Europe	Sub	1266	G=0.8697	A=0.1303
1000Genomes_30x	South Asian	Sub	1202	G=0.7554	A=0.2446
1000Genomes_30x	East Asian	Sub	1170	G=0.7949	A=0.2051
1000Genomes_30x	American	Sub	980	G=0.815	A=0.185
1000Genomes	Global	Study-wide	5008	G=0.7596	A=0.2404
1000Genomes	African	Sub	1322	G=0.6210	A=0.3790
1000Genomes	East Asian	Sub	1008	G=0.8056	A=0.1944
1000Genomes	Europe	Sub	1006	G=0.8648	A=0.1352
1000Genomes	South Asian	Sub	978	G=0.753	A=0.247
1000Genomes	American	Sub	694	G=0.814	A=0.186
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8875	A=0.1125
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8653	A=0.1347
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8595	A=0.1405
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.8195	A=0.1805
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.7826	A=0.2174
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.777	A=0.223
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.751	A=0.249
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.814	A=0.186
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.897	A=0.103
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.698	A=0.302
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.847	A=0.153
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.43	A=0.57
HapMap	Global	Study-wide	1882	G=0.7609	A=0.2391
HapMap	American	Sub	766	G=0.802	A=0.198
HapMap	African	Sub	686	G=0.666	A=0.334
HapMap	Asian	Sub	254	G=0.823	A=0.177
HapMap	Europe	Sub	176	G=0.864	A=0.136
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	G=0.8360	A=0.1640
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.866	A=0.134
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=0.810	A=0.190
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.779	A=0.221
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.907	A=0.093
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.64	A=0.36
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.92	A=0.08
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.883	A=0.117
CNV burdens in cranial meningiomas	Global	Study-wide	788	G=0.786	A=0.214
CNV burdens in cranial meningiomas	CRM	Sub	788	G=0.786	A=0.214
Chileans	Chilean	Study-wide	626	G=0.810	A=0.190
A Vietnamese Genetic Variation Database	Global	Study-wide	612	G=0.783	A=0.217
Northern Sweden	ACPOP	Study-wide	600	G=0.917	A=0.083
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.863	A=0.137
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.822	A=0.178
Qatari	Global	Study-wide	216	G=0.782	A=0.218
SGDP_PRJ	Global	Study-wide	216	G=0.431	A=0.569
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	G=0.95	A=0.05
The Danish reference pan genome	Danish	Study-wide	40	G=0.90	A=0.10
Siberian	Global	Study-wide	14	G=0.43	A=0.57

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 6	NC_000006.12:g.7581403G>A
GRCh37.p13 chr 6	NC_000006.11:g.7581636G>A
DSP RefSeqGene (LRG_423)	NG_008803.1:g.44767G>A

Gene: DSP, desmoplakin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DSP transcript variant 2	NM_001008844.3:c.3583-123… NM_001008844.3:c.3583-1239G>A	N/A	Intron Variant
DSP transcript variant 3	NM_001319034.2:c.4050+116… NM_001319034.2:c.4050+1163G>A	N/A	Intron Variant
DSP transcript variant 1	NM_004415.4:c.5213G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
desmoplakin isoform I	NP_004406.2:p.Arg1738Gln	R (Arg) > Q (Gln)	Missense 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: 54092 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000038061.16	not specified	Benign
RCV000275007.4	Lethal acantholytic epidermolysis bullosa	Benign
RCV000330163.4	Skin fragility-woolly hair-palmoplantar keratoderma syndrome	Benign
RCV000356673.4	Arrhythmogenic right ventricular dysplasia 8	Benign
RCV000430654.5	not provided	Benign
RCV000620084.2	Cardiovascular phenotype	Benign
RCV000771053.2	Cardiomyopathy	Benign
RCV001510664.5	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,Arrhythmogenic right ventricular dysplasia 8	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 6	NC_000006.12:g.7581403=	NC_000006.12:g.7581403G>A
GRCh37.p13 chr 6	NC_000006.11:g.7581636=	NC_000006.11:g.7581636G>A
DSP RefSeqGene (LRG_423)	NG_008803.1:g.44767=	NG_008803.1:g.44767G>A
DSP transcript variant 1	NM_004415.4:c.5213=	NM_004415.4:c.5213G>A
DSP transcript variant 1	NM_004415.3:c.5213=	NM_004415.3:c.5213G>A
DSP transcript variant 1	NM_004415.2:c.5213=	NM_004415.2:c.5213G>A
desmoplakin isoform I	NP_004406.2:p.Arg1738=	NP_004406.2:p.Arg1738Gln
DSP transcript variant 2	NM_001008844.1:c.3583-1239=	NM_001008844.1:c.3583-1239G>A
DSP transcript variant 2	NM_001008844.3:c.3583-1239=	NM_001008844.3:c.3583-1239G>A
DSP transcript variant 3	NM_001319034.2:c.4050+1163=	NM_001319034.2:c.4050+1163G>A
DSP transcript variant X1	XM_005248864.1:c.4050+1163=	XM_005248864.1:c.4050+1163G>A

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#.

158 SubSNP, 30 Frequency, 8 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10324971	Jul 11, 2003 (116)
2	PERLEGEN	ss23293421	Sep 20, 2004 (123)
3	APPLERA_GI	ss48405613	Mar 15, 2006 (126)
4	ILLUMINA	ss66592588	Nov 29, 2006 (127)
5	ILLUMINA	ss67517622	Nov 29, 2006 (127)
6	ILLUMINA	ss67883327	Nov 29, 2006 (127)
7	PERLEGEN	ss68964247	May 17, 2007 (127)
8	ILLUMINA	ss70896233	May 26, 2008 (130)
9	ILLUMINA	ss71490509	May 17, 2007 (127)
10	SI_EXO	ss71644571	May 17, 2007 (127)
11	AFFY	ss74815726	Aug 16, 2007 (128)
12	ILLUMINA	ss74914911	Dec 07, 2007 (129)
13	AFFY	ss76826892	Dec 07, 2007 (129)
14	ILLUMINA	ss79239015	Dec 16, 2007 (130)
15	KRIBB_YJKIM	ss80738140	Dec 16, 2007 (130)
16	KRIBB_YJKIM	ss84577578	Dec 16, 2007 (130)
17	1000GENOMES	ss113862447	Jan 25, 2009 (130)
18	ILLUMINA	ss122649267	Dec 01, 2009 (131)
19	ILLUMINA	ss154392497	Dec 01, 2009 (131)
20	GMI	ss156496928	Dec 01, 2009 (131)
21	ILLUMINA	ss159568072	Dec 01, 2009 (131)
22	SEATTLESEQ	ss159711203	Dec 01, 2009 (131)
23	ILLUMINA	ss160826497	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss163112548	Jul 04, 2010 (132)
25	ILLUMINA	ss172219383	Jul 04, 2010 (132)
26	ILLUMINA	ss174170924	Jul 04, 2010 (132)
27	BUSHMAN	ss201386751	Jul 04, 2010 (132)
28	1000GENOMES	ss222194033	Jul 14, 2010 (132)
29	1000GENOMES	ss233312855	Jul 14, 2010 (132)
30	1000GENOMES	ss240400421	Jul 15, 2010 (132)
31	ILLUMINA	ss244307091	Jul 04, 2010 (132)
32	GMI	ss278641898	May 04, 2012 (137)
33	NHLBI-ESP	ss342200912	May 09, 2011 (134)
34	ILLUMINA	ss481403041	May 04, 2012 (137)
35	ILLUMINA	ss481429718	May 04, 2012 (137)
36	ILLUMINA	ss482409225	Sep 08, 2015 (146)
37	ILLUMINA	ss485496459	May 04, 2012 (137)
38	1000GENOMES	ss490919205	May 04, 2012 (137)
39	EXOME_CHIP	ss491377489	May 04, 2012 (137)
40	CLINSEQ_SNP	ss491880428	May 04, 2012 (137)
41	ILLUMINA	ss537411398	Sep 08, 2015 (146)
42	TISHKOFF	ss558987273	Apr 25, 2013 (138)
43	SSMP	ss652896296	Apr 25, 2013 (138)
44	ILLUMINA	ss778585721	Sep 08, 2015 (146)
45	ILLUMINA	ss783193776	Sep 08, 2015 (146)
46	ILLUMINA	ss783528893	Sep 08, 2015 (146)
47	ILLUMINA	ss784148874	Sep 08, 2015 (146)
48	ILLUMINA	ss825569533	Apr 01, 2015 (144)
49	ILLUMINA	ss832453637	Sep 08, 2015 (146)
50	ILLUMINA	ss833079189	Jul 13, 2019 (153)
51	ILLUMINA	ss834042870	Sep 08, 2015 (146)
52	EVA-GONL	ss982556130	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1067475155	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1073359963	Aug 21, 2014 (142)
55	1000GENOMES	ss1318863169	Aug 21, 2014 (142)
56	HAMMER_LAB	ss1397440181	Sep 08, 2015 (146)
57	DDI	ss1430629324	Apr 01, 2015 (144)
58	EVA_GENOME_DK	ss1581520909	Apr 01, 2015 (144)
59	EVA_FINRISK	ss1584043626	Apr 01, 2015 (144)
60	EVA_DECODE	ss1592103324	Apr 01, 2015 (144)
61	EVA_UK10K_ALSPAC	ss1614891621	Apr 01, 2015 (144)
62	EVA_UK10K_TWINSUK	ss1657885654	Apr 01, 2015 (144)
63	EVA_EXAC	ss1688151631	Apr 01, 2015 (144)
64	EVA_MGP	ss1711111512	Apr 01, 2015 (144)
65	EVA_SVP	ss1712833570	Apr 01, 2015 (144)
66	ILLUMINA	ss1752647541	Sep 08, 2015 (146)
67	ILLUMINA	ss1752647542	Sep 08, 2015 (146)
68	HAMMER_LAB	ss1804268287	Sep 08, 2015 (146)
69	EVA_MCP	ss1815616731	Sep 08, 2015 (146)
70	ILLUMINA	ss1917799086	Feb 12, 2016 (147)
71	WEILL_CORNELL_DGM	ss1925814234	Feb 12, 2016 (147)
72	ILLUMINA	ss1946166802	Feb 12, 2016 (147)
73	ILLUMINA	ss1958860696	Feb 12, 2016 (147)
74	GENOMED	ss1970303804	Jul 19, 2016 (147)
75	JJLAB	ss2023522771	Sep 14, 2016 (149)
76	USC_VALOUEV	ss2151685468	Dec 20, 2016 (150)
77	HUMAN_LONGEVITY	ss2281555132	Dec 20, 2016 (150)
78	SYSTEMSBIOZJU	ss2626249199	Nov 08, 2017 (151)
79	ILLUMINA	ss2634396360	Nov 08, 2017 (151)
80	ILLUMINA	ss2635153468	Nov 08, 2017 (151)
81	GRF	ss2707271039	Nov 08, 2017 (151)
82	GNOMAD	ss2735528500	Nov 08, 2017 (151)
83	GNOMAD	ss2747543663	Nov 08, 2017 (151)
84	GNOMAD	ss2835485557	Nov 08, 2017 (151)
85	AFFY	ss2985352769	Nov 08, 2017 (151)
86	AFFY	ss2985980780	Nov 08, 2017 (151)
87	SWEGEN	ss2998472418	Nov 08, 2017 (151)
88	ILLUMINA	ss3022572295	Nov 08, 2017 (151)
89	BIOINF_KMB_FNS_UNIBA	ss3025545877	Nov 08, 2017 (151)
90	CSHL	ss3346824011	Nov 08, 2017 (151)
91	ILLUMINA	ss3629437908	Oct 12, 2018 (152)
92	ILLUMINA	ss3632316838	Oct 12, 2018 (152)
93	ILLUMINA	ss3633405138	Oct 12, 2018 (152)
94	ILLUMINA	ss3634127108	Oct 12, 2018 (152)
95	ILLUMINA	ss3635043099	Oct 12, 2018 (152)
96	ILLUMINA	ss3635043100	Oct 12, 2018 (152)
97	ILLUMINA	ss3635808457	Oct 12, 2018 (152)
98	ILLUMINA	ss3636757771	Oct 12, 2018 (152)
99	ILLUMINA	ss3637561172	Oct 12, 2018 (152)
100	ILLUMINA	ss3638605503	Oct 12, 2018 (152)
101	ILLUMINA	ss3639305455	Oct 12, 2018 (152)
102	ILLUMINA	ss3639677644	Oct 12, 2018 (152)
103	ILLUMINA	ss3640750394	Oct 12, 2018 (152)
104	ILLUMINA	ss3640750395	Oct 12, 2018 (152)
105	ILLUMINA	ss3643547396	Oct 12, 2018 (152)
106	ILLUMINA	ss3644899862	Oct 12, 2018 (152)
107	OMUKHERJEE_ADBS	ss3646330535	Oct 12, 2018 (152)
108	ILLUMINA	ss3653080252	Oct 12, 2018 (152)
109	ILLUMINA	ss3654121062	Oct 12, 2018 (152)
110	EGCUT_WGS	ss3666396780	Jul 13, 2019 (153)
111	EVA_DECODE	ss3716529466	Jul 13, 2019 (153)
112	ILLUMINA	ss3726308167	Jul 13, 2019 (153)
113	ACPOP	ss3733179429	Jul 13, 2019 (153)
114	ILLUMINA	ss3744545521	Jul 13, 2019 (153)
115	ILLUMINA	ss3745343206	Jul 13, 2019 (153)
116	ILLUMINA	ss3745343207	Jul 13, 2019 (153)
117	EVA	ss3764579216	Jul 13, 2019 (153)
118	PAGE_CC	ss3771260730	Jul 13, 2019 (153)
119	ILLUMINA	ss3772837024	Jul 13, 2019 (153)
120	ILLUMINA	ss3772837025	Jul 13, 2019 (153)
121	KHV_HUMAN_GENOMES	ss3807740665	Jul 13, 2019 (153)
122	EVA	ss3824154018	Apr 26, 2020 (154)
123	EVA	ss3825689467	Apr 26, 2020 (154)
124	EVA	ss3836378095	Apr 26, 2020 (154)
125	EVA	ss3838333732	Apr 26, 2020 (154)
126	EVA	ss3843773775	Apr 26, 2020 (154)
127	HGDP	ss3847821885	Apr 26, 2020 (154)
128	SGDP_PRJ	ss3863862016	Apr 26, 2020 (154)
129	KRGDB	ss3910600170	Apr 26, 2020 (154)
130	FSA-LAB	ss3984328526	Apr 26, 2021 (155)
131	FSA-LAB	ss3984328527	Apr 26, 2021 (155)
132	EVA	ss3984561047	Apr 26, 2021 (155)
133	EVA	ss3985197805	Apr 26, 2021 (155)
134	EVA	ss3986335353	Apr 26, 2021 (155)
135	EVA	ss4017253720	Apr 26, 2021 (155)
136	TOPMED	ss4692744119	Apr 26, 2021 (155)
137	TOMMO_GENOMICS	ss5176037050	Apr 26, 2021 (155)
138	EVA	ss5237019624	Apr 26, 2021 (155)
139	EVA	ss5237645103	Oct 13, 2022 (156)
140	1000G_HIGH_COVERAGE	ss5267304925	Oct 13, 2022 (156)
141	TRAN_CS_UWATERLOO	ss5314415008	Oct 13, 2022 (156)
142	EVA	ss5315119935	Oct 13, 2022 (156)
143	EVA	ss5363634561	Oct 13, 2022 (156)
144	HUGCELL_USP	ss5465105159	Oct 13, 2022 (156)
145	EVA	ss5508337957	Oct 13, 2022 (156)
146	1000G_HIGH_COVERAGE	ss5552683387	Oct 13, 2022 (156)
147	SANFORD_IMAGENETICS	ss5639713322	Oct 13, 2022 (156)
148	TOMMO_GENOMICS	ss5713668907	Oct 13, 2022 (156)
149	EVA	ss5799675273	Oct 13, 2022 (156)
150	EVA	ss5800055021	Oct 13, 2022 (156)
151	EVA	ss5800127104	Oct 13, 2022 (156)
152	YY_MCH	ss5807128042	Oct 13, 2022 (156)
153	EVA	ss5841756152	Oct 13, 2022 (156)
154	EVA	ss5848079974	Oct 13, 2022 (156)
155	EVA	ss5848645089	Oct 13, 2022 (156)
156	EVA	ss5855190462	Oct 13, 2022 (156)
157	EVA	ss5882544209	Oct 13, 2022 (156)
158	EVA	ss5968209164	Oct 13, 2022 (156)
159	1000Genomes	NC_000006.11 - 7581636	Oct 12, 2018 (152)
160	1000Genomes_30x	NC_000006.12 - 7581403	Oct 13, 2022 (156)
161	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 7581636	Oct 12, 2018 (152)
162	Chileans	NC_000006.11 - 7581636	Apr 26, 2020 (154)
163	Genome-wide autozygosity in Daghestan	NC_000006.10 - 7526635	Apr 26, 2020 (154)
164	Genetic variation in the Estonian population	NC_000006.11 - 7581636	Oct 12, 2018 (152)
165	ExAC	NC_000006.11 - 7581636	Oct 12, 2018 (152)
166	FINRISK	NC_000006.11 - 7581636	Apr 26, 2020 (154)
167	The Danish reference pan genome	NC_000006.11 - 7581636	Apr 26, 2020 (154)
168	gnomAD - Genomes	NC_000006.12 - 7581403	Apr 26, 2021 (155)
169	gnomAD - Exomes	NC_000006.11 - 7581636	Jul 13, 2019 (153)
170	GO Exome Sequencing Project	NC_000006.11 - 7581636	Oct 12, 2018 (152)
171	Genome of the Netherlands Release 5	NC_000006.11 - 7581636	Apr 26, 2020 (154)
172	HGDP-CEPH-db Supplement 1	NC_000006.10 - 7526635	Apr 26, 2020 (154)
173	HapMap	NC_000006.12 - 7581403	Apr 26, 2020 (154)
174	KOREAN population from KRGDB	NC_000006.11 - 7581636	Apr 26, 2020 (154)
175	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 7581636	Apr 26, 2020 (154)
176	Northern Sweden	NC_000006.11 - 7581636	Jul 13, 2019 (153)
177	The PAGE Study	NC_000006.12 - 7581403	Jul 13, 2019 (153)
178	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 7581636	Apr 26, 2021 (155)
179	CNV burdens in cranial meningiomas	NC_000006.11 - 7581636	Apr 26, 2021 (155)
180	Qatari	NC_000006.11 - 7581636	Apr 26, 2020 (154)
181	SGDP_PRJ	NC_000006.11 - 7581636	Apr 26, 2020 (154)
182	Siberian	NC_000006.11 - 7581636	Apr 26, 2020 (154)
183	8.3KJPN	NC_000006.11 - 7581636	Apr 26, 2021 (155)
184	14KJPN	NC_000006.12 - 7581403	Oct 13, 2022 (156)
185	TopMed	NC_000006.12 - 7581403	Apr 26, 2021 (155)
186	UK 10K study - Twins	NC_000006.11 - 7581636	Oct 12, 2018 (152)
187	A Vietnamese Genetic Variation Database	NC_000006.11 - 7581636	Jul 13, 2019 (153)
188	ALFA	NC_000006.12 - 7581403	Apr 26, 2021 (155)
189	ClinVar	RCV000038061.16	Oct 13, 2022 (156)
190	ClinVar	RCV000275007.4	Oct 13, 2022 (156)
191	ClinVar	RCV000330163.4	Oct 13, 2022 (156)
192	ClinVar	RCV000356673.4	Oct 13, 2022 (156)
193	ClinVar	RCV000430654.5	Oct 13, 2022 (156)
194	ClinVar	RCV000620084.2	Oct 13, 2022 (156)
195	ClinVar	RCV000771053.2	Oct 13, 2022 (156)
196	ClinVar	RCV001510664.5	Oct 13, 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)
rs52837086	Sep 21, 2007 (128)
rs61346221	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639305455, ss3639677644	NC_000006.9:7526634:G:A	NC_000006.12:7581402:G:A	(self)
414892, 499777, ss76826892, ss113862447, ss163112548, ss201386751, ss278641898, ss481403041, ss491880428, ss825569533, ss1397440181, ss1592103324, ss1712833570, ss2635153468, ss3643547396, ss3847821885	NC_000006.10:7526634:G:A	NC_000006.12:7581402:G:A	(self)
30601849, 17037686, 370413, 12135028, 8169722, 40087, 7685848, 4664289, 612071, 7561842, 17777564, 227272, 6464294, 423732, 110422, 7856164, 15878996, 4201822, 34006357, 17037686, 3772768, ss222194033, ss233312855, ss240400421, ss342200912, ss481429718, ss482409225, ss485496459, ss490919205, ss491377489, ss537411398, ss558987273, ss652896296, ss778585721, ss783193776, ss783528893, ss784148874, ss832453637, ss833079189, ss834042870, ss982556130, ss1067475155, ss1073359963, ss1318863169, ss1430629324, ss1581520909, ss1584043626, ss1614891621, ss1657885654, ss1688151631, ss1711111512, ss1752647541, ss1752647542, ss1804268287, ss1815616731, ss1917799086, ss1925814234, ss1946166802, ss1958860696, ss1970303804, ss2023522771, ss2151685468, ss2626249199, ss2634396360, ss2707271039, ss2735528500, ss2747543663, ss2835485557, ss2985352769, ss2985980780, ss2998472418, ss3022572295, ss3346824011, ss3629437908, ss3632316838, ss3633405138, ss3634127108, ss3635043099, ss3635043100, ss3635808457, ss3636757771, ss3637561172, ss3638605503, ss3640750394, ss3640750395, ss3644899862, ss3646330535, ss3653080252, ss3654121062, ss3666396780, ss3733179429, ss3744545521, ss3745343206, ss3745343207, ss3764579216, ss3772837024, ss3772837025, ss3824154018, ss3825689467, ss3836378095, ss3838333732, ss3863862016, ss3910600170, ss3984328526, ss3984328527, ss3984561047, ss3985197805, ss3986335353, ss4017253720, ss5176037050, ss5315119935, ss5363634561, ss5508337957, ss5639713322, ss5799675273, ss5800055021, ss5800127104, ss5841756152, ss5848079974, ss5848645089, ss5968209164	NC_000006.11:7581635:G:A	NC_000006.12:7581402:G:A	(self)
RCV000038061.16, RCV000275007.4, RCV000330163.4, RCV000356673.4, RCV000430654.5, RCV000620084.2, RCV000771053.2, RCV001510664.5, 40209322, 216320861, 3054781, 482199, 47506011, 530121677, 7060965881, ss2281555132, ss3025545877, ss3716529466, ss3726308167, ss3771260730, ss3807740665, ss3843773775, ss4692744119, ss5237019624, ss5237645103, ss5267304925, ss5314415008, ss5465105159, ss5552683387, ss5713668907, ss5807128042, ss5855190462, ss5882544209	NC_000006.12:7581402:G:A	NC_000006.12:7581402:G:A	(self)
ss23293421, ss48405613, ss66592588, ss67517622, ss67883327, ss68964247, ss70896233, ss71490509, ss71644571, ss74815726, ss74914911, ss79239015, ss80738140, ss84577578, ss122649267, ss154392497, ss156496928, ss159568072, ss159711203, ss160826497, ss172219383, ss174170924, ss244307091	NT_007592.15:7521635:G:A	NC_000006.12:7581402:G:A	(self)
ss10324971	NT_034880.2:7521634:G:A	NC_000006.12:7581402:G:A	(self)

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

4 citations for rs6929069

PMID	Title	Author	Year	Journal
17332845	Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease.	Evangelou E et al.	2007	PloS one
23861362	Interpreting secondary cardiac disease variants in an exome cohort.	Ng D et al.	2013	Circulation. Cardiovascular genetics
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

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

rs6929069