Name: rs12709651
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.

rs12709651

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:31408505 (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>C / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.421780 (111641/264690, TOPMED)
C=0.483118 (99076/205076, GENOGRAPHIC)
C=0.476697 (96310/202036, ALFA) (+ 22 more)
C=0.39262 (30880/78652, PAGE_STUDY)
A=0.46773 (13217/28258, 14KJPN)
A=0.47011 (7879/16760, 8.3KJPN)
C=0.3919 (2510/6404, 1000G_30x)
C=0.3948 (1977/5008, 1000G)
A=0.4672 (2093/4480, Estonian)
A=0.4977 (1918/3854, ALSPAC)
C=0.4817 (1786/3708, TWINSUK)
A=0.4850 (1421/2930, KOREAN)
C=0.4341 (903/2080, HGDP_Stanford)
C=0.3938 (745/1892, HapMap)
A=0.4618 (846/1832, Korea1K)
A=0.489 (488/998, GoNL)
A=0.424 (325/766, PRJEB37584)
C=0.450 (270/600, NorthernSweden)
A=0.346 (123/356, SGDP_PRJ)
C=0.343 (74/216, Qatari)
C=0.476 (100/210, Vietnamese)
A=0.29 (14/48, Siberian)
A=0.50 (20/40, GENOME_DK)
C=0.50 (20/40, GENOME_DK)
A=0.47 (16/34, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DSG1-AS1 : Intron Variant
DSG4 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	202036	A=0.523303	C=0.476697, T=0.000000
European	Sub	177554	A=0.509073	C=0.490927, T=0.000000
African	Sub	6126	A=0.7973	C=0.2027, T=0.0000
African Others	Sub	230	A=0.826	C=0.174, T=0.000
African American	Sub	5896	A=0.7961	C=0.2039, T=0.0000
Asian	Sub	368	A=0.495	C=0.505, T=0.000
East Asian	Sub	242	A=0.508	C=0.492, T=0.000
Other Asian	Sub	126	A=0.468	C=0.532, T=0.000
Latin American 1	Sub	796	A=0.594	C=0.406, T=0.000
Latin American 2	Sub	4388	A=0.5565	C=0.4435, T=0.0000
South Asian	Sub	4972	A=0.6346	C=0.3654, T=0.0000
Other	Sub	7832	A=0.5365	C=0.4635, T=0.0000

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	A=0.578220	C=0.421780
Genographic Project	Global	Study-wide	205076	A=0.516882	C=0.483118, T=0.000000
Allele Frequency Aggregator	Total	Global	202036	A=0.523303	C=0.476697, T=0.000000
Allele Frequency Aggregator	European	Sub	177554	A=0.509073	C=0.490927, T=0.000000
Allele Frequency Aggregator	Other	Sub	7832	A=0.5365	C=0.4635, T=0.0000
Allele Frequency Aggregator	African	Sub	6126	A=0.7973	C=0.2027, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	4972	A=0.6346	C=0.3654, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	4388	A=0.5565	C=0.4435, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	796	A=0.594	C=0.406, T=0.000
Allele Frequency Aggregator	Asian	Sub	368	A=0.495	C=0.505, T=0.000
The PAGE Study	Global	Study-wide	78652	A=0.60738	C=0.39262
The PAGE Study	AfricanAmerican	Sub	32498	A=0.72038	C=0.27962
The PAGE Study	Mexican	Sub	10806	A=0.53757	C=0.46243
The PAGE Study	Asian	Sub	8318	A=0.4768	C=0.5232
The PAGE Study	PuertoRican	Sub	7918	A=0.5883	C=0.4117
The PAGE Study	NativeHawaiian	Sub	4528	A=0.3834	C=0.6166
The PAGE Study	Cuban	Sub	4218	A=0.5346	C=0.4654
The PAGE Study	Dominican	Sub	3824	A=0.6284	C=0.3716
The PAGE Study	CentralAmerican	Sub	2446	A=0.5074	C=0.4926
The PAGE Study	SouthAmerican	Sub	1982	A=0.5272	C=0.4728
The PAGE Study	NativeAmerican	Sub	1258	A=0.5556	C=0.4444
The PAGE Study	SouthAsian	Sub	856	A=0.641	C=0.359
14KJPN	JAPANESE	Study-wide	28258	A=0.46773	C=0.53227
8.3KJPN	JAPANESE	Study-wide	16760	A=0.47011	C=0.52989
1000Genomes_30x	Global	Study-wide	6404	A=0.6079	C=0.3919, T=0.0002
1000Genomes_30x	African	Sub	1786	A=0.7839	C=0.2156, T=0.0006
1000Genomes_30x	Europe	Sub	1266	A=0.5095	C=0.4905, T=0.0000
1000Genomes_30x	South Asian	Sub	1202	A=0.6639	C=0.3361, T=0.0000
1000Genomes_30x	East Asian	Sub	1170	A=0.4829	C=0.5171, T=0.0000
1000Genomes_30x	American	Sub	980	A=0.495	C=0.505, T=0.000
1000Genomes	Global	Study-wide	5008	A=0.6052	C=0.3948
1000Genomes	African	Sub	1322	A=0.7890	C=0.2110
1000Genomes	East Asian	Sub	1008	A=0.4802	C=0.5198
1000Genomes	Europe	Sub	1006	A=0.5089	C=0.4911
1000Genomes	South Asian	Sub	978	A=0.661	C=0.339
1000Genomes	American	Sub	694	A=0.499	C=0.501
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4672	C=0.5328
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4977	C=0.5023
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5183	C=0.4817
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4850	C=0.5150
HGDP-CEPH-db Supplement 1	Global	Study-wide	2080	A=0.5659	C=0.4341
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.468	C=0.532
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.604	C=0.396
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.534	C=0.466
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.475	C=0.525
HGDP-CEPH-db Supplement 1	Africa	Sub	240	A=0.833	C=0.167
HGDP-CEPH-db Supplement 1	America	Sub	214	A=0.645	C=0.355
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.42	C=0.58
HapMap	Global	Study-wide	1892	A=0.6062	C=0.3938
HapMap	American	Sub	770	A=0.582	C=0.418
HapMap	African	Sub	692	A=0.718	C=0.282
HapMap	Asian	Sub	254	A=0.472	C=0.528
HapMap	Europe	Sub	176	A=0.466	C=0.534
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4618	C=0.5382
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.489	C=0.511
CNV burdens in cranial meningiomas	Global	Study-wide	766	A=0.424	C=0.576
CNV burdens in cranial meningiomas	CRM	Sub	766	A=0.424	C=0.576
Northern Sweden	ACPOP	Study-wide	600	A=0.550	C=0.450
SGDP_PRJ	Global	Study-wide	356	A=0.346	C=0.654
Qatari	Global	Study-wide	216	A=0.657	C=0.343
A Vietnamese Genetic Variation Database	Global	Study-wide	210	A=0.524	C=0.476
Siberian	Global	Study-wide	48	A=0.29	C=0.71
The Danish reference pan genome	Danish	Study-wide	40	A=0.50	C=0.50
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	34	A=0.47	C=0.53

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 18	NC_000018.10:g.31408505A>C
GRCh38.p14 chr 18	NC_000018.10:g.31408505A>T
GRCh37.p13 chr 18	NC_000018.9:g.28988468A>C
GRCh37.p13 chr 18	NC_000018.9:g.28988468A>T
DSG4 RefSeqGene	NG_013040.1:g.36729A>C
DSG4 RefSeqGene	NG_013040.1:g.36729A>T

Gene: DSG4, desmoglein 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DSG4 transcript variant 1	NM_001134453.3:c.1934-947… NM_001134453.3:c.1934-947A>C	N/A	Intron Variant
DSG4 transcript variant 2	NM_177986.5:c.1934-947A>C	N/A	Intron Variant

Gene: DSG1-AS1, DSG1 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DSG1-AS1 transcript variant 1	NR_110788.1:n.	N/A	Intron Variant
DSG1-AS1 transcript variant 2	NR_110789.1:n.	N/A	Genic Upstream 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=	C	T
GRCh38.p14 chr 18	NC_000018.10:g.31408505=	NC_000018.10:g.31408505A>C	NC_000018.10:g.31408505A>T
GRCh37.p13 chr 18	NC_000018.9:g.28988468=	NC_000018.9:g.28988468A>C	NC_000018.9:g.28988468A>T
DSG4 RefSeqGene	NG_013040.1:g.36729=	NG_013040.1:g.36729A>C	NG_013040.1:g.36729A>T
DSG4 transcript variant 1	NM_001134453.1:c.1934-947=	NM_001134453.1:c.1934-947A>C	NM_001134453.1:c.1934-947A>T
DSG4 transcript variant 1	NM_001134453.3:c.1934-947=	NM_001134453.3:c.1934-947A>C	NM_001134453.3:c.1934-947A>T
DSG4 transcript variant 2	NM_177986.3:c.1934-947=	NM_177986.3:c.1934-947A>C	NM_177986.3:c.1934-947A>T
DSG4 transcript variant 2	NM_177986.5:c.1934-947=	NM_177986.5:c.1934-947A>C	NM_177986.5:c.1934-947A>T

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#.

129 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss21470215	Apr 05, 2004 (121)
2	WI_SSAHASNP	ss23018519	Apr 05, 2004 (121)
3	PERLEGEN	ss24198194	Sep 20, 2004 (123)
4	ABI	ss40892534	Mar 15, 2006 (126)
5	AFFY	ss66289719	Dec 01, 2006 (127)
6	ILLUMINA	ss67035314	Dec 01, 2006 (127)
7	ILLUMINA	ss67359047	Dec 01, 2006 (127)
8	ILLUMINA	ss68137662	Dec 12, 2006 (127)
9	PERLEGEN	ss69210603	May 17, 2007 (127)
10	ILLUMINA	ss70582733	May 25, 2008 (130)
11	ILLUMINA	ss71125212	May 17, 2007 (127)
12	ILLUMINA	ss75602893	Dec 07, 2007 (129)
13	AFFY	ss75953325	Dec 07, 2007 (129)
14	KRIBB_YJKIM	ss85266406	Dec 15, 2007 (130)
15	BCMHGSC_JDW	ss90752571	Mar 24, 2008 (129)
16	HUMANGENOME_JCVI	ss96332742	Feb 06, 2009 (130)
17	BGI	ss103385615	Dec 01, 2009 (131)
18	1000GENOMES	ss110318543	Jan 24, 2009 (130)
19	1000GENOMES	ss114215187	Jan 25, 2009 (130)
20	ENSEMBL	ss136447536	Dec 01, 2009 (131)
21	ENSEMBL	ss137321471	Dec 01, 2009 (131)
22	ILLUMINA	ss153273334	Dec 01, 2009 (131)
23	GMI	ss155002806	Dec 01, 2009 (131)
24	ILLUMINA	ss159232459	Dec 01, 2009 (131)
25	ILLUMINA	ss160296246	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss168002717	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss169427470	Jul 04, 2010 (132)
28	AFFY	ss169610753	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss171658222	Jul 04, 2010 (132)
30	ILLUMINA	ss172229689	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss208106426	Jul 04, 2010 (132)
32	1000GENOMES	ss227798624	Jul 14, 2010 (132)
33	1000GENOMES	ss237421730	Jul 15, 2010 (132)
34	1000GENOMES	ss243681930	Jul 15, 2010 (132)
35	BL	ss255572001	May 09, 2011 (134)
36	GMI	ss282949401	May 04, 2012 (137)
37	PJP	ss292150312	May 09, 2011 (134)
38	ILLUMINA	ss479810433	May 04, 2012 (137)
39	ILLUMINA	ss479817514	May 04, 2012 (137)
40	ILLUMINA	ss480401774	Sep 08, 2015 (146)
41	ILLUMINA	ss484703708	May 04, 2012 (137)
42	ILLUMINA	ss536810046	Sep 08, 2015 (146)
43	TISHKOFF	ss565572873	Apr 25, 2013 (138)
44	SSMP	ss661400968	Apr 25, 2013 (138)
45	ILLUMINA	ss778414572	Aug 21, 2014 (142)
46	ILLUMINA	ss782798621	Aug 21, 2014 (142)
47	ILLUMINA	ss783764188	Aug 21, 2014 (142)
48	ILLUMINA	ss832051560	Apr 01, 2015 (144)
49	ILLUMINA	ss832744799	Aug 21, 2014 (142)
50	ILLUMINA	ss833335629	Aug 21, 2014 (142)
51	ILLUMINA	ss833869886	Aug 21, 2014 (142)
52	EVA-GONL	ss993606985	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1081411107	Aug 21, 2014 (142)
54	1000GENOMES	ss1360568204	Aug 21, 2014 (142)
55	DDI	ss1428182943	Apr 01, 2015 (144)
56	EVA_GENOME_DK	ss1578355834	Apr 01, 2015 (144)
57	EVA_UK10K_ALSPAC	ss1636626761	Apr 01, 2015 (144)
58	EVA_UK10K_TWINSUK	ss1679620794	Apr 01, 2015 (144)
59	EVA_DECODE	ss1697661215	Apr 01, 2015 (144)
60	EVA_SVP	ss1713617369	Apr 01, 2015 (144)
61	ILLUMINA	ss1752252110	Sep 08, 2015 (146)
62	HAMMER_LAB	ss1809002160	Sep 08, 2015 (146)
63	WEILL_CORNELL_DGM	ss1937081868	Feb 12, 2016 (147)
64	ILLUMINA	ss1946495476	Feb 12, 2016 (147)
65	ILLUMINA	ss1959796614	Feb 12, 2016 (147)
66	GENOMED	ss1968497089	Jul 19, 2016 (147)
67	JJLAB	ss2029310014	Sep 14, 2016 (149)
68	USC_VALOUEV	ss2157812365	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2220607701	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2629153826	Nov 08, 2017 (151)
71	ILLUMINA	ss2633459545	Nov 08, 2017 (151)
72	GRF	ss2702397002	Nov 08, 2017 (151)
73	GNOMAD	ss2955387354	Nov 08, 2017 (151)
74	SWEGEN	ss3016347753	Nov 08, 2017 (151)
75	BIOINF_KMB_FNS_UNIBA	ss3028481804	Nov 08, 2017 (151)
76	CSHL	ss3351972751	Nov 08, 2017 (151)
77	ILLUMINA	ss3625723538	Oct 12, 2018 (152)
78	ILLUMINA	ss3627783857	Oct 12, 2018 (152)
79	ILLUMINA	ss3631436755	Oct 12, 2018 (152)
80	ILLUMINA	ss3633158691	Oct 12, 2018 (152)
81	ILLUMINA	ss3633867328	Oct 12, 2018 (152)
82	ILLUMINA	ss3634701317	Oct 12, 2018 (152)
83	ILLUMINA	ss3635554694	Oct 12, 2018 (152)
84	ILLUMINA	ss3636390362	Oct 12, 2018 (152)
85	ILLUMINA	ss3637306292	Oct 12, 2018 (152)
86	ILLUMINA	ss3638189915	Oct 12, 2018 (152)
87	ILLUMINA	ss3639102885	Oct 12, 2018 (152)
88	ILLUMINA	ss3639859139	Oct 12, 2018 (152)
89	ILLUMINA	ss3640408625	Oct 12, 2018 (152)
90	ILLUMINA	ss3643166125	Oct 12, 2018 (152)
91	ILLUMINA	ss3643908316	Oct 12, 2018 (152)
92	ILLUMINA	ss3644703536	Oct 12, 2018 (152)
93	URBANLAB	ss3650768954	Oct 12, 2018 (152)
94	EGCUT_WGS	ss3683176575	Jul 13, 2019 (153)
95	EVA_DECODE	ss3701440546	Jul 13, 2019 (153)
96	ACPOP	ss3742446690	Jul 13, 2019 (153)
97	ILLUMINA	ss3744157224	Jul 13, 2019 (153)
98	ILLUMINA	ss3745001478	Jul 13, 2019 (153)
99	EVA	ss3755249165	Jul 13, 2019 (153)
100	PAGE_CC	ss3771965524	Jul 13, 2019 (153)
101	ILLUMINA	ss3772498999	Jul 13, 2019 (153)
102	PACBIO	ss3788342804	Jul 13, 2019 (153)
103	PACBIO	ss3793278450	Jul 13, 2019 (153)
104	PACBIO	ss3798164754	Jul 13, 2019 (153)
105	KHV_HUMAN_GENOMES	ss3820517827	Jul 13, 2019 (153)
106	EVA	ss3835114736	Apr 27, 2020 (154)
107	EVA	ss3841174218	Apr 27, 2020 (154)
108	EVA	ss3846675809	Apr 27, 2020 (154)
109	HGDP	ss3847579395	Apr 27, 2020 (154)
110	SGDP_PRJ	ss3886788428	Apr 27, 2020 (154)
111	KRGDB	ss3936635673	Apr 27, 2020 (154)
112	KOGIC	ss3979938129	Apr 27, 2020 (154)
113	EVA	ss3984731224	Apr 27, 2021 (155)
114	EVA	ss3985818774	Apr 27, 2021 (155)
115	TOPMED	ss5052576618	Apr 27, 2021 (155)
116	TOMMO_GENOMICS	ss5224666463	Apr 27, 2021 (155)
117	1000G_HIGH_COVERAGE	ss5304900788	Oct 16, 2022 (156)
118	GENOGRAPHIC	ss5314575080	Oct 16, 2022 (156)
119	EVA	ss5315925295	Oct 16, 2022 (156)
120	HUGCELL_USP	ss5497710339	Oct 16, 2022 (156)
121	1000G_HIGH_COVERAGE	ss5609522352	Oct 16, 2022 (156)
122	SANFORD_IMAGENETICS	ss5661075050	Oct 16, 2022 (156)
123	TOMMO_GENOMICS	ss5782313067	Oct 16, 2022 (156)
124	EVA	ss5799990192	Oct 16, 2022 (156)
125	YY_MCH	ss5817002157	Oct 16, 2022 (156)
126	EVA	ss5827390270	Oct 16, 2022 (156)
127	EVA	ss5847818196	Oct 16, 2022 (156)
128	EVA	ss5852007682	Oct 16, 2022 (156)
129	EVA	ss5952473334	Oct 16, 2022 (156)
130	1000Genomes	NC_000018.9 - 28988468	Oct 12, 2018 (152)
131	1000Genomes_30x	NC_000018.10 - 31408505	Oct 16, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 28988468	Oct 12, 2018 (152)
133	Genetic variation in the Estonian population	NC_000018.9 - 28988468	Oct 12, 2018 (152)
134	Genographic Project	NC_000018.10 - 31408505	Oct 16, 2022 (156)
135	The Danish reference pan genome	NC_000018.9 - 28988468	Apr 27, 2020 (154)
136	gnomAD - Genomes Submission ignored due to conflicting rows: Row 521198597 (NC_000018.10:31408504:A:C 60030/140094) Row 521198598 (NC_000018.10:31408504:A:T 6/140142)	-	Apr 27, 2021 (155)
137	gnomAD - Genomes Submission ignored due to conflicting rows: Row 521198597 (NC_000018.10:31408504:A:C 60030/140094) Row 521198598 (NC_000018.10:31408504:A:T 6/140142)	-	Apr 27, 2021 (155)
138	Genome of the Netherlands Release 5	NC_000018.9 - 28988468	Apr 27, 2020 (154)
139	HGDP-CEPH-db Supplement 1	NC_000018.8 - 27242466	Apr 27, 2020 (154)
140	HapMap	NC_000018.10 - 31408505	Apr 27, 2020 (154)
141	KOREAN population from KRGDB	NC_000018.9 - 28988468	Apr 27, 2020 (154)
142	Korean Genome Project	NC_000018.10 - 31408505	Apr 27, 2020 (154)
143	Northern Sweden	NC_000018.9 - 28988468	Jul 13, 2019 (153)
144	The PAGE Study	NC_000018.10 - 31408505	Jul 13, 2019 (153)
145	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000018.9 - 28988468	Apr 27, 2021 (155)
146	CNV burdens in cranial meningiomas	NC_000018.9 - 28988468	Apr 27, 2021 (155)
147	Qatari	NC_000018.9 - 28988468	Apr 27, 2020 (154)
148	SGDP_PRJ	NC_000018.9 - 28988468	Apr 27, 2020 (154)
149	Siberian	NC_000018.9 - 28988468	Apr 27, 2020 (154)
150	8.3KJPN	NC_000018.9 - 28988468	Apr 27, 2021 (155)
151	14KJPN	NC_000018.10 - 31408505	Oct 16, 2022 (156)
152	TopMed	NC_000018.10 - 31408505	Apr 27, 2021 (155)
153	UK 10K study - Twins	NC_000018.9 - 28988468	Oct 12, 2018 (152)
154	A Vietnamese Genetic Variation Database	NC_000018.9 - 28988468	Jul 13, 2019 (153)
155	ALFA	NC_000018.10 - 31408505	Apr 27, 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)
rs17802238	Oct 08, 2004 (123)
rs60074350	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
257287, ss66289719, ss75953325, ss90752571, ss110318543, ss114215187, ss160296246, ss168002717, ss169427470, ss169610753, ss171658222, ss208106426, ss255572001, ss282949401, ss292150312, ss479810433, ss1697661215, ss1713617369, ss3639102885, ss3639859139, ss3643166125, ss3643908316, ss3847579395	NC_000018.8:27242465:A:C	NC_000018.10:31408504:A:C	(self)
73881905, 40926306, 28914823, 4549830, 18236889, 43813067, 15731555, 1044701, 280776, 19123790, 38805408, 10328719, 82635770, 40926306, 9045986, ss227798624, ss237421730, ss243681930, ss479817514, ss480401774, ss484703708, ss536810046, ss565572873, ss661400968, ss778414572, ss782798621, ss783764188, ss832051560, ss832744799, ss833335629, ss833869886, ss993606985, ss1081411107, ss1360568204, ss1428182943, ss1578355834, ss1636626761, ss1679620794, ss1752252110, ss1809002160, ss1937081868, ss1946495476, ss1959796614, ss1968497089, ss2029310014, ss2157812365, ss2629153826, ss2633459545, ss2702397002, ss2955387354, ss3016347753, ss3351972751, ss3625723538, ss3627783857, ss3631436755, ss3633158691, ss3633867328, ss3634701317, ss3635554694, ss3636390362, ss3637306292, ss3638189915, ss3640408625, ss3644703536, ss3683176575, ss3742446690, ss3744157224, ss3745001478, ss3755249165, ss3772498999, ss3788342804, ss3793278450, ss3798164754, ss3835114736, ss3841174218, ss3886788428, ss3936635673, ss3984731224, ss3985818774, ss5224666463, ss5315925295, ss5661075050, ss5799990192, ss5827390270, ss5847818196, ss5952473334	NC_000018.9:28988467:A:C	NC_000018.10:31408504:A:C	(self)
97048287, 46297, 1577416, 36316130, 1186993, 116150171, 268122281, 12634209770, ss2220607701, ss3028481804, ss3650768954, ss3701440546, ss3771965524, ss3820517827, ss3846675809, ss3979938129, ss5052576618, ss5304900788, ss5314575080, ss5497710339, ss5609522352, ss5782313067, ss5817002157, ss5852007682	NC_000018.10:31408504:A:C	NC_000018.10:31408504:A:C	(self)
ss21470215, ss23018519	NT_010966.13:10477569:A:C	NC_000018.10:31408504:A:C	(self)
ss24198194, ss40892534, ss67035314, ss67359047, ss68137662, ss69210603, ss70582733, ss71125212, ss75602893, ss85266406, ss96332742, ss103385615, ss136447536, ss137321471, ss153273334, ss155002806, ss159232459, ss172229689	NT_010966.14:10477569:A:C	NC_000018.10:31408504:A:C	(self)
ss2955387354	NC_000018.9:28988467:A:T	NC_000018.10:31408504:A:T	(self)
97048287, 46297, 12634209770, ss2220607701, ss5314575080, ss5609522352	NC_000018.10:31408504:A:T	NC_000018.10:31408504:A:T	(self)

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

No publications for rs12709651

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

rs12709651