Name: rs12701937
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.

rs12701937

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:41782319 (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: T=0.394959 (122047/309012, ALFA)
T=0.280075 (74133/264690, TOPMED)
T=0.301091 (42187/140114, GnomAD) (+ 23 more)
T=0.19554 (15346/78482, PAGE_STUDY)
T=0.38318 (10828/28258, 14KJPN)
T=0.38268 (6413/16758, 8.3KJPN)
T=0.2344 (1501/6404, 1000G_30x)
T=0.2426 (1215/5008, 1000G)
T=0.4464 (2000/4480, Estonian)
T=0.3915 (1509/3854, ALSPAC)
T=0.3972 (1473/3708, TWINSUK)
T=0.3812 (1117/2930, KOREAN)
T=0.2879 (600/2084, HGDP_Stanford)
T=0.2479 (468/1888, HapMap)
T=0.3690 (676/1832, Korea1K)
T=0.3127 (354/1132, Daghestan)
T=0.414 (413/998, GoNL)
T=0.366 (287/784, PRJEB37584)
T=0.212 (133/626, Chileans)
T=0.413 (248/600, NorthernSweden)
C=0.386 (91/236, SGDP_PRJ)
T=0.361 (78/216, Qatari)
T=0.322 (69/214, Vietnamese)
T=0.44 (32/72, Ancient Sardinia)
C=0.38 (16/42, Siberian)
T=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	314040	C=0.606378	T=0.393622
European	Sub	275404	C=0.585002	T=0.414998
African	Sub	12404	C=0.92583	T=0.07417
African Others	Sub	468	C=0.991	T=0.009
African American	Sub	11936	C=0.92326	T=0.07674
Asian	Sub	3978	C=0.6531	T=0.3469
East Asian	Sub	3200	C=0.6506	T=0.3494
Other Asian	Sub	778	C=0.663	T=0.337
Latin American 1	Sub	1220	C=0.7180	T=0.2820
Latin American 2	Sub	5320	C=0.7474	T=0.2526
South Asian	Sub	5234	C=0.6760	T=0.3240
Other	Sub	10480	C=0.65296	T=0.34704

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	309012	C=0.605041	T=0.394959
Allele Frequency Aggregator	European	Sub	272310	C=0.584951	T=0.415049
Allele Frequency Aggregator	African	Sub	11268	C=0.92501	T=0.07499
Allele Frequency Aggregator	Other	Sub	9682	C=0.6472	T=0.3528
Allele Frequency Aggregator	Latin American 2	Sub	5320	C=0.7474	T=0.2526
Allele Frequency Aggregator	South Asian	Sub	5234	C=0.6760	T=0.3240
Allele Frequency Aggregator	Asian	Sub	3978	C=0.6531	T=0.3469
Allele Frequency Aggregator	Latin American 1	Sub	1220	C=0.7180	T=0.2820
TopMed	Global	Study-wide	264690	C=0.719925	T=0.280075
gnomAD - Genomes	Global	Study-wide	140114	C=0.698909	T=0.301091
gnomAD - Genomes	European	Sub	75854	C=0.58036	T=0.41964
gnomAD - Genomes	African	Sub	42028	C=0.92272	T=0.07728
gnomAD - Genomes	American	Sub	13636	C=0.71502	T=0.28498
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.5244	T=0.4756
gnomAD - Genomes	East Asian	Sub	3126	C=0.6846	T=0.3154
gnomAD - Genomes	Other	Sub	2150	C=0.6944	T=0.3056
The PAGE Study	Global	Study-wide	78482	C=0.80446	T=0.19554
The PAGE Study	AfricanAmerican	Sub	32432	C=0.91511	T=0.08489
The PAGE Study	Mexican	Sub	10776	C=0.76281	T=0.23719
The PAGE Study	Asian	Sub	8276	C=0.6271	T=0.3729
The PAGE Study	PuertoRican	Sub	7906	C=0.7468	T=0.2532
The PAGE Study	NativeHawaiian	Sub	4522	C=0.7364	T=0.2636
The PAGE Study	Cuban	Sub	4218	C=0.6875	T=0.3125
The PAGE Study	Dominican	Sub	3820	C=0.7819	T=0.2181
The PAGE Study	CentralAmerican	Sub	2446	C=0.7837	T=0.2163
The PAGE Study	SouthAmerican	Sub	1974	C=0.7847	T=0.2153
The PAGE Study	NativeAmerican	Sub	1256	C=0.6967	T=0.3033
The PAGE Study	SouthAsian	Sub	856	C=0.683	T=0.317
14KJPN	JAPANESE	Study-wide	28258	C=0.61682	T=0.38318
8.3KJPN	JAPANESE	Study-wide	16758	C=0.61732	T=0.38268
1000Genomes_30x	Global	Study-wide	6404	C=0.7656	T=0.2344
1000Genomes_30x	African	Sub	1786	C=0.9737	T=0.0263
1000Genomes_30x	Europe	Sub	1266	C=0.5900	T=0.4100
1000Genomes_30x	South Asian	Sub	1202	C=0.7188	T=0.2812
1000Genomes_30x	East Asian	Sub	1170	C=0.6932	T=0.3068
1000Genomes_30x	American	Sub	980	C=0.757	T=0.243
1000Genomes	Global	Study-wide	5008	C=0.7574	T=0.2426
1000Genomes	African	Sub	1322	C=0.9697	T=0.0303
1000Genomes	East Asian	Sub	1008	C=0.6935	T=0.3065
1000Genomes	Europe	Sub	1006	C=0.5845	T=0.4155
1000Genomes	South Asian	Sub	978	C=0.716	T=0.284
1000Genomes	American	Sub	694	C=0.755	T=0.245
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5536	T=0.4464
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6085	T=0.3915
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6028	T=0.3972
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6188	T=0.3812
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7121	T=0.2879
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.657	T=0.343
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.659	T=0.341
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.600	T=0.400
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.616	T=0.384
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.996	T=0.004
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.889	T=0.111
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.86	T=0.14
HapMap	Global	Study-wide	1888	C=0.7521	T=0.2479
HapMap	American	Sub	768	C=0.669	T=0.331
HapMap	African	Sub	692	C=0.947	T=0.053
HapMap	Asian	Sub	252	C=0.643	T=0.357
HapMap	Europe	Sub	176	C=0.506	T=0.494
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6310	T=0.3690
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	C=0.6873	T=0.3127
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	C=0.703	T=0.297
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.639	T=0.361
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.656	T=0.344
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.639	T=0.361
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.76	T=0.24
Genome-wide autozygosity in Daghestan	Caucasus	Sub	34	C=0.68	T=0.32
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.586	T=0.414
CNV burdens in cranial meningiomas	Global	Study-wide	784	C=0.634	T=0.366
CNV burdens in cranial meningiomas	CRM	Sub	784	C=0.634	T=0.366
Chileans	Chilean	Study-wide	626	C=0.788	T=0.212
Northern Sweden	ACPOP	Study-wide	600	C=0.587	T=0.413
SGDP_PRJ	Global	Study-wide	236	C=0.386	T=0.614
Qatari	Global	Study-wide	216	C=0.639	T=0.361
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.678	T=0.322
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	72	C=0.56	T=0.44
Siberian	Global	Study-wide	42	C=0.38	T=0.62
The Danish reference pan genome	Danish	Study-wide	40	C=0.68	T=0.33

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 7	NC_000007.14:g.41782319C>T
GRCh37.p13 chr 7	NC_000007.13:g.41821917C>T

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	C=	T
GRCh38.p14 chr 7	NC_000007.14:g.41782319=	NC_000007.14:g.41782319C>T
GRCh37.p13 chr 7	NC_000007.13:g.41821917=	NC_000007.13:g.41821917C>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#.

131 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss22548285	Apr 05, 2004 (121)
2	SSAHASNP	ss22925653	Apr 05, 2004 (121)
3	PERLEGEN	ss24682785	Sep 20, 2004 (123)
4	ABI	ss44825157	Mar 13, 2006 (126)
5	AFFY	ss66251060	Dec 01, 2006 (127)
6	ILLUMINA	ss66768126	Dec 01, 2006 (127)
7	ILLUMINA	ss67034640	Dec 01, 2006 (127)
8	ILLUMINA	ss67358221	Dec 01, 2006 (127)
9	PERLEGEN	ss69014078	May 17, 2007 (127)
10	ILLUMINA	ss70415189	May 17, 2007 (127)
11	ILLUMINA	ss70582394	May 25, 2008 (130)
12	ILLUMINA	ss71124804	May 17, 2007 (127)
13	ILLUMINA	ss75756807	Dec 07, 2007 (129)
14	AFFY	ss76396391	Dec 07, 2007 (129)
15	KRIBB_YJKIM	ss85265299	Dec 15, 2007 (130)
16	HUMANGENOME_JCVI	ss98147939	Feb 05, 2009 (130)
17	BGI	ss104421377	Dec 01, 2009 (131)
18	ILLUMINA	ss121596937	Dec 01, 2009 (131)
19	ENSEMBL	ss139424832	Dec 01, 2009 (131)
20	ILLUMINA	ss153271934	Dec 01, 2009 (131)
21	ILLUMINA	ss159232120	Dec 01, 2009 (131)
22	ILLUMINA	ss160295676	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss166479799	Jul 04, 2010 (132)
24	ILLUMINA	ss170211853	Jul 04, 2010 (132)
25	ILLUMINA	ss172227330	Jul 04, 2010 (132)
26	AFFY	ss173467889	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss207963739	Jul 04, 2010 (132)
28	1000GENOMES	ss233943970	Jul 15, 2010 (132)
29	1000GENOMES	ss240905065	Jul 15, 2010 (132)
30	GMI	ss279276835	May 04, 2012 (137)
31	PJP	ss294054905	May 09, 2011 (134)
32	ILLUMINA	ss479808628	May 04, 2012 (137)
33	ILLUMINA	ss479815681	May 04, 2012 (137)
34	ILLUMINA	ss480399493	Sep 08, 2015 (146)
35	ILLUMINA	ss484702801	May 04, 2012 (137)
36	ILLUMINA	ss536809385	Sep 08, 2015 (146)
37	TISHKOFF	ss559953445	Apr 25, 2013 (138)
38	SSMP	ss654312311	Apr 25, 2013 (138)
39	ILLUMINA	ss778789026	Sep 08, 2015 (146)
40	ILLUMINA	ss782798170	Sep 08, 2015 (146)
41	ILLUMINA	ss783763749	Sep 08, 2015 (146)
42	ILLUMINA	ss825384463	Apr 01, 2015 (144)
43	ILLUMINA	ss832051099	Sep 08, 2015 (146)
44	ILLUMINA	ss832744462	Jul 13, 2019 (153)
45	ILLUMINA	ss834249054	Sep 08, 2015 (146)
46	EVA-GONL	ss984193805	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1074546845	Aug 21, 2014 (142)
48	1000GENOMES	ss1324818268	Aug 21, 2014 (142)
49	HAMMER_LAB	ss1397492465	Sep 08, 2015 (146)
50	DDI	ss1431099461	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1582168009	Apr 01, 2015 (144)
52	EVA_DECODE	ss1593767911	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1618048061	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1661042094	Apr 01, 2015 (144)
55	EVA_SVP	ss1712950102	Apr 01, 2015 (144)
56	ILLUMINA	ss1752685837	Sep 08, 2015 (146)
57	WEILL_CORNELL_DGM	ss1927438315	Feb 12, 2016 (147)
58	ILLUMINA	ss1946207224	Feb 12, 2016 (147)
59	ILLUMINA	ss1959006498	Feb 12, 2016 (147)
60	GENOMED	ss1970681552	Jul 19, 2016 (147)
61	JJLAB	ss2024400136	Sep 14, 2016 (149)
62	USC_VALOUEV	ss2152596170	Dec 20, 2016 (150)
63	HUMAN_LONGEVITY	ss2293411811	Dec 20, 2016 (150)
64	SYSTEMSBIOZJU	ss2626687990	Nov 08, 2017 (151)
65	ILLUMINA	ss2634597395	Nov 08, 2017 (151)
66	GRF	ss2708258377	Nov 08, 2017 (151)
67	ILLUMINA	ss2711109208	Nov 08, 2017 (151)
68	GNOMAD	ss2852269139	Nov 08, 2017 (151)
69	SWEGEN	ss3000990832	Nov 08, 2017 (151)
70	ILLUMINA	ss3022729048	Nov 08, 2017 (151)
71	BIOINF_KMB_FNS_UNIBA	ss3025994851	Nov 08, 2017 (151)
72	CSHL	ss3347546599	Nov 08, 2017 (151)
73	ILLUMINA	ss3625926974	Oct 12, 2018 (152)
74	ILLUMINA	ss3629801776	Oct 12, 2018 (152)
75	ILLUMINA	ss3632505352	Oct 12, 2018 (152)
76	ILLUMINA	ss3633461088	Oct 12, 2018 (152)
77	ILLUMINA	ss3634185896	Oct 12, 2018 (152)
78	ILLUMINA	ss3635118478	Oct 12, 2018 (152)
79	ILLUMINA	ss3635865777	Oct 12, 2018 (152)
80	ILLUMINA	ss3636850402	Oct 12, 2018 (152)
81	ILLUMINA	ss3637618734	Oct 12, 2018 (152)
82	ILLUMINA	ss3638693996	Oct 12, 2018 (152)
83	ILLUMINA	ss3639349707	Oct 12, 2018 (152)
84	ILLUMINA	ss3639702706	Oct 12, 2018 (152)
85	ILLUMINA	ss3640825771	Oct 12, 2018 (152)
86	ILLUMINA	ss3641211315	Oct 12, 2018 (152)
87	ILLUMINA	ss3641508731	Oct 12, 2018 (152)
88	ILLUMINA	ss3643630113	Oct 12, 2018 (152)
89	ILLUMINA	ss3644940329	Oct 12, 2018 (152)
90	URBANLAB	ss3648612857	Oct 12, 2018 (152)
91	ILLUMINA	ss3653259574	Oct 12, 2018 (152)
92	EGCUT_WGS	ss3668911952	Jul 13, 2019 (153)
93	EVA_DECODE	ss3719541237	Jul 13, 2019 (153)
94	ILLUMINA	ss3726439159	Jul 13, 2019 (153)
95	ACPOP	ss3734561156	Jul 13, 2019 (153)
96	ILLUMINA	ss3744288689	Jul 13, 2019 (153)
97	ILLUMINA	ss3745418535	Jul 13, 2019 (153)
98	EVA	ss3766465268	Jul 13, 2019 (153)
99	PAGE_CC	ss3771365972	Jul 13, 2019 (153)
100	ILLUMINA	ss3772911487	Jul 13, 2019 (153)
101	PACBIO	ss3785795409	Jul 13, 2019 (153)
102	PACBIO	ss3791100531	Jul 13, 2019 (153)
103	PACBIO	ss3795980434	Jul 13, 2019 (153)
104	KHV_HUMAN_GENOMES	ss3809628415	Jul 13, 2019 (153)
105	EVA	ss3830532492	Apr 26, 2020 (154)
106	EVA	ss3838754190	Apr 26, 2020 (154)
107	EVA	ss3844206053	Apr 26, 2020 (154)
108	HGDP	ss3847874787	Apr 26, 2020 (154)
109	SGDP_PRJ	ss3867105389	Apr 26, 2020 (154)
110	KRGDB	ss3914166584	Apr 26, 2020 (154)
111	KOGIC	ss3961311871	Apr 26, 2020 (154)
112	EVA	ss3984587156	Apr 26, 2021 (155)
113	EVA	ss3985292507	Apr 26, 2021 (155)
114	EVA	ss4017332965	Apr 26, 2021 (155)
115	TOPMED	ss4743306853	Apr 26, 2021 (155)
116	TOMMO_GENOMICS	ss5182804699	Apr 26, 2021 (155)
117	1000G_HIGH_COVERAGE	ss5272605569	Oct 14, 2022 (156)
118	EVA	ss5315243148	Oct 14, 2022 (156)
119	EVA	ss5373065836	Oct 14, 2022 (156)
120	HUGCELL_USP	ss5469808686	Oct 14, 2022 (156)
121	EVA	ss5508928371	Oct 14, 2022 (156)
122	1000G_HIGH_COVERAGE	ss5560637114	Oct 14, 2022 (156)
123	SANFORD_IMAGENETICS	ss5642794134	Oct 14, 2022 (156)
124	TOMMO_GENOMICS	ss5722538649	Oct 14, 2022 (156)
125	EVA	ss5799722930	Oct 14, 2022 (156)
126	YY_MCH	ss5808532166	Oct 14, 2022 (156)
127	EVA	ss5822715129	Oct 14, 2022 (156)
128	EVA	ss5848135858	Oct 14, 2022 (156)
129	EVA	ss5855860748	Oct 14, 2022 (156)
130	EVA	ss5858596266	Oct 14, 2022 (156)
131	EVA	ss5972004512	Oct 14, 2022 (156)
132	1000Genomes	NC_000007.13 - 41821917	Oct 12, 2018 (152)
133	1000Genomes_30x	NC_000007.14 - 41782319	Oct 14, 2022 (156)
134	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 41821917	Oct 12, 2018 (152)
135	Chileans	NC_000007.13 - 41821917	Apr 26, 2020 (154)
136	Genome-wide autozygosity in Daghestan	NC_000007.12 - 41788442	Apr 26, 2020 (154)
137	Genetic variation in the Estonian population	NC_000007.13 - 41821917	Oct 12, 2018 (152)
138	The Danish reference pan genome	NC_000007.13 - 41821917	Apr 26, 2020 (154)
139	gnomAD - Genomes	NC_000007.14 - 41782319	Apr 26, 2021 (155)
140	Genome of the Netherlands Release 5	NC_000007.13 - 41821917	Apr 26, 2020 (154)
141	HGDP-CEPH-db Supplement 1	NC_000007.12 - 41788442	Apr 26, 2020 (154)
142	HapMap	NC_000007.14 - 41782319	Apr 26, 2020 (154)
143	KOREAN population from KRGDB	NC_000007.13 - 41821917	Apr 26, 2020 (154)
144	Korean Genome Project	NC_000007.14 - 41782319	Apr 26, 2020 (154)
145	Northern Sweden	NC_000007.13 - 41821917	Jul 13, 2019 (153)
146	The PAGE Study	NC_000007.14 - 41782319	Jul 13, 2019 (153)
147	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 41821917	Apr 26, 2021 (155)
148	CNV burdens in cranial meningiomas	NC_000007.13 - 41821917	Apr 26, 2021 (155)
149	Qatari	NC_000007.13 - 41821917	Apr 26, 2020 (154)
150	SGDP_PRJ	NC_000007.13 - 41821917	Apr 26, 2020 (154)
151	Siberian	NC_000007.13 - 41821917	Apr 26, 2020 (154)
152	8.3KJPN	NC_000007.13 - 41821917	Apr 26, 2021 (155)
153	14KJPN	NC_000007.14 - 41782319	Oct 14, 2022 (156)
154	TopMed	NC_000007.14 - 41782319	Apr 26, 2021 (155)
155	UK 10K study - Twins	NC_000007.13 - 41821917	Oct 12, 2018 (152)
156	A Vietnamese Genetic Variation Database	NC_000007.13 - 41821917	Jul 13, 2019 (153)
157	ALFA	NC_000007.14 - 41782319	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)
rs17638647	Oct 08, 2004 (123)
rs59205814	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639349707, ss3639702706	NC_000007.11:41595156:C:T	NC_000007.14:41782318:C:T	(self)
466664, 552679, ss166479799, ss207963739, ss279276835, ss294054905, ss479808628, ss825384463, ss1397492465, ss1593767911, ss1712950102, ss3643630113, ss3847874787	NC_000007.12:41788441:C:T	NC_000007.14:41782318:C:T	(self)
36777311, 20509541, 407776, 14650200, 8332948, 9146358, 21343978, 7846021, 518434, 136577, 9480245, 19122369, 5112524, 40774006, 20509541, 4570177, ss233943970, ss240905065, ss479815681, ss480399493, ss484702801, ss536809385, ss559953445, ss654312311, ss778789026, ss782798170, ss783763749, ss832051099, ss832744462, ss834249054, ss984193805, ss1074546845, ss1324818268, ss1431099461, ss1582168009, ss1618048061, ss1661042094, ss1752685837, ss1927438315, ss1946207224, ss1959006498, ss1970681552, ss2024400136, ss2152596170, ss2626687990, ss2634597395, ss2708258377, ss2711109208, ss2852269139, ss3000990832, ss3022729048, ss3347546599, ss3625926974, ss3629801776, ss3632505352, ss3633461088, ss3634185896, ss3635118478, ss3635865777, ss3636850402, ss3637618734, ss3638693996, ss3640825771, ss3641211315, ss3641508731, ss3644940329, ss3653259574, ss3668911952, ss3734561156, ss3744288689, ss3745418535, ss3766465268, ss3772911487, ss3785795409, ss3791100531, ss3795980434, ss3830532492, ss3838754190, ss3867105389, ss3914166584, ss3984587156, ss3985292507, ss4017332965, ss5182804699, ss5315243148, ss5373065836, ss5508928371, ss5642794134, ss5799722930, ss5822715129, ss5848135858, ss5972004512	NC_000007.13:41821916:C:T	NC_000007.14:41782318:C:T	(self)
48163049, 259280790, 3386256, 17689872, 587441, 56375753, 580684412, 10510474682, ss2293411811, ss3025994851, ss3648612857, ss3719541237, ss3726439159, ss3771365972, ss3809628415, ss3844206053, ss3961311871, ss4743306853, ss5272605569, ss5469808686, ss5560637114, ss5722538649, ss5808532166, ss5855860748, ss5858596266	NC_000007.14:41782318:C:T	NC_000007.14:41782318:C:T	(self)
ss22548285, ss22925653	NT_007819.14:41114032:C:T	NC_000007.14:41782318:C:T	(self)
ss24682785, ss44825157, ss66251060, ss66768126, ss67034640, ss67358221, ss69014078, ss70415189, ss70582394, ss71124804, ss75756807, ss76396391, ss85265299, ss98147939, ss104421377, ss121596937, ss139424832, ss153271934, ss159232120, ss160295676, ss170211853, ss172227330, ss173467889	NT_007819.17:41811916:C:T	NC_000007.14:41782318:C: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 rs12701937

PMID	Title	Author	Year	Journal
20610541	Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.	Lascorz J et al.	2010	Carcinogenesis
21490705	Genetics, cytogenetics, and epigenetics of colorectal cancer.	Migliore L et al.	2011	Journal of biomedicine & biotechnology
24764655	Genetic variations in colorectal cancer risk and clinical outcome.	Zhang K et al.	2014	World journal of gastroenterology

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.
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

rs12701937