Name: rs4611262
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.

rs4611262

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:102108981 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.172164 (45570/264690, TOPMED)
T=0.218898 (45273/206822, ALFA)
T=0.218065 (44720/205076, GENOGRAPHIC) (+ 20 more)
T=0.170665 (23918/140146, GnomAD)
T=0.10793 (3050/28258, 14KJPN)
T=0.10770 (1805/16760, 8.3KJPN)
T=0.1732 (1109/6404, 1000G_30x)
T=0.1701 (852/5008, 1000G)
T=0.2281 (1022/4480, Estonian)
T=0.2182 (841/3854, ALSPAC)
T=0.2306 (855/3708, TWINSUK)
T=0.1235 (362/2930, KOREAN)
T=0.1739 (362/2082, HGDP_Stanford)
T=0.1103 (202/1832, Korea1K)
T=0.1799 (204/1134, Daghestan)
T=0.199 (199/998, GoNL)
T=0.227 (136/600, NorthernSweden)
T=0.124 (66/534, SGDP_PRJ)
T=0.116 (25/216, Qatari)
T=0.130 (28/216, Vietnamese)
T=0.29 (14/48, Siberian)
T=0.33 (13/40, GENOME_DK)
T=0.17 (4/24, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NUP37 : 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	206822	T=0.218898	C=0.781102
European	Sub	175896	T=0.221199	C=0.778801
African	Sub	7774	T=0.0480	C=0.9520
African Others	Sub	276	T=0.011	C=0.989
African American	Sub	7498	T=0.0493	C=0.9507
Asian	Sub	750	T=0.084	C=0.916
East Asian	Sub	574	T=0.094	C=0.906
Other Asian	Sub	176	T=0.051	C=0.949
Latin American 1	Sub	990	T=0.167	C=0.833
Latin American 2	Sub	9058	T=0.3061	C=0.6939
South Asian	Sub	5056	T=0.2935	C=0.7065
Other	Sub	7298	T=0.2065	C=0.7935

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	T=0.172164	C=0.827836
Allele Frequency Aggregator	Total	Global	206822	T=0.218898	C=0.781102
Allele Frequency Aggregator	European	Sub	175896	T=0.221199	C=0.778801
Allele Frequency Aggregator	Latin American 2	Sub	9058	T=0.3061	C=0.6939
Allele Frequency Aggregator	African	Sub	7774	T=0.0480	C=0.9520
Allele Frequency Aggregator	Other	Sub	7298	T=0.2065	C=0.7935
Allele Frequency Aggregator	South Asian	Sub	5056	T=0.2935	C=0.7065
Allele Frequency Aggregator	Latin American 1	Sub	990	T=0.167	C=0.833
Allele Frequency Aggregator	Asian	Sub	750	T=0.084	C=0.916
Genographic Project	Global	Study-wide	205076	T=0.218065	C=0.781935
gnomAD - Genomes	Global	Study-wide	140146	T=0.170665	C=0.829335
gnomAD - Genomes	European	Sub	75868	T=0.21817	C=0.78183
gnomAD - Genomes	African	Sub	42038	T=0.04746	C=0.95254
gnomAD - Genomes	American	Sub	13632	T=0.28521	C=0.71479
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.2191	C=0.7809
gnomAD - Genomes	East Asian	Sub	3132	T=0.1095	C=0.8905
gnomAD - Genomes	Other	Sub	2154	T=0.1913	C=0.8087
14KJPN	JAPANESE	Study-wide	28258	T=0.10793	C=0.89207
8.3KJPN	JAPANESE	Study-wide	16760	T=0.10770	C=0.89230
1000Genomes_30x	Global	Study-wide	6404	T=0.1732	C=0.8268
1000Genomes_30x	African	Sub	1786	T=0.0106	C=0.9894
1000Genomes_30x	Europe	Sub	1266	T=0.2425	C=0.7575
1000Genomes_30x	South Asian	Sub	1202	T=0.2729	C=0.7271
1000Genomes_30x	East Asian	Sub	1170	T=0.1325	C=0.8675
1000Genomes_30x	American	Sub	980	T=0.306	C=0.694
1000Genomes	Global	Study-wide	5008	T=0.1701	C=0.8299
1000Genomes	African	Sub	1322	T=0.0113	C=0.9887
1000Genomes	East Asian	Sub	1008	T=0.1280	C=0.8720
1000Genomes	Europe	Sub	1006	T=0.2416	C=0.7584
1000Genomes	South Asian	Sub	978	T=0.265	C=0.735
1000Genomes	American	Sub	694	T=0.297	C=0.703
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.2281	C=0.7719
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.2182	C=0.7818
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2306	C=0.7694
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1235	C=0.8765
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.1739	C=0.8261
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	T=0.141	C=0.859
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.234	C=0.766
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.151	C=0.849
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.231	C=0.769
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.008	C=0.992
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.324	C=0.676
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.00	C=1.00
Korean Genome Project	KOREAN	Study-wide	1832	T=0.1103	C=0.8897
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	T=0.1799	C=0.8201
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	T=0.150	C=0.850
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.167	C=0.833
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.189	C=0.811
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.306	C=0.694
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.26	C=0.74
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.14	C=0.86
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.199	C=0.801
Northern Sweden	ACPOP	Study-wide	600	T=0.227	C=0.773
SGDP_PRJ	Global	Study-wide	534	T=0.124	C=0.876
Qatari	Global	Study-wide	216	T=0.116	C=0.884
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.130	C=0.870
Siberian	Global	Study-wide	48	T=0.29	C=0.71
The Danish reference pan genome	Danish	Study-wide	40	T=0.33	C=0.68
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	24	T=0.17	C=0.83

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 12	NC_000012.12:g.102108981T>C
GRCh37.p13 chr 12	NC_000012.11:g.102502759T>C

Gene: NUP37, nucleoporin 37 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NUP37 transcript	NM_024057.4:c.281+3127A>G	N/A	Intron Variant
NUP37 transcript variant X1	XM_047429530.1:c.281+3127… XM_047429530.1:c.281+3127A>G	N/A	Intron 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	T=	C
GRCh38.p14 chr 12	NC_000012.12:g.102108981=	NC_000012.12:g.102108981T>C
GRCh37.p13 chr 12	NC_000012.11:g.102502759=	NC_000012.11:g.102502759T>C
NUP37 transcript	NM_024057.2:c.281+3127=	NM_024057.2:c.281+3127A>G
NUP37 transcript	NM_024057.4:c.281+3127=	NM_024057.4:c.281+3127A>G
NUP37 transcript variant X1	XM_005269144.1:c.281+3127=	XM_005269144.1:c.281+3127A>G
NUP37 transcript variant X2	XM_005269145.1:c.-23+3127=	XM_005269145.1:c.-23+3127A>G
NUP37 transcript variant X1	XM_047429530.1:c.281+3127=	XM_047429530.1:c.281+3127A>G

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#.

140 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss6251970	Feb 20, 2003 (111)
2	BCM_SSAHASNP	ss11026143	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss12199963	Jul 11, 2003 (116)
4	PERLEGEN	ss14902501	Dec 05, 2003 (119)
5	CSHL-HAPMAP	ss17472716	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss19250727	Feb 27, 2004 (120)
7	PERLEGEN	ss24455206	Sep 20, 2004 (123)
8	ABI	ss38894942	Mar 13, 2006 (126)
9	AFFY	ss65932607	Dec 01, 2006 (127)
10	AFFY	ss66518199	Dec 01, 2006 (127)
11	ILLUMINA	ss66683813	Dec 01, 2006 (127)
12	ILLUMINA	ss67350065	Dec 01, 2006 (127)
13	ILLUMINA	ss67741688	Dec 01, 2006 (127)
14	PERLEGEN	ss69118857	May 18, 2007 (127)
15	ILLUMINA	ss70811557	May 26, 2008 (130)
16	ILLUMINA	ss71391858	May 18, 2007 (127)
17	ILLUMINA	ss75591547	Dec 06, 2007 (129)
18	AFFY	ss76340728	Dec 06, 2007 (129)
19	ILLUMINA	ss79186805	Dec 16, 2007 (130)
20	HGSV	ss80073424	Dec 16, 2007 (130)
21	KRIBB_YJKIM	ss84298611	Dec 16, 2007 (130)
22	BCMHGSC_JDW	ss89356413	Mar 24, 2008 (129)
23	HUMANGENOME_JCVI	ss97335980	Feb 06, 2009 (130)
24	BGI	ss105116221	Dec 01, 2009 (131)
25	1000GENOMES	ss112398535	Jan 25, 2009 (130)
26	1000GENOMES	ss114025512	Jan 25, 2009 (130)
27	ILLUMINA-UK	ss119684243	Dec 01, 2009 (131)
28	ILLUMINA	ss122338050	Dec 01, 2009 (131)
29	ENSEMBL	ss132053394	Dec 01, 2009 (131)
30	ENSEMBL	ss133335497	Dec 01, 2009 (131)
31	ILLUMINA	ss154302499	Dec 01, 2009 (131)
32	GMI	ss157850122	Dec 01, 2009 (131)
33	ILLUMINA	ss159479344	Dec 01, 2009 (131)
34	ILLUMINA	ss160691089	Dec 01, 2009 (131)
35	COMPLETE_GENOMICS	ss168683648	Jul 04, 2010 (132)
36	COMPLETE_GENOMICS	ss170786077	Jul 04, 2010 (132)
37	ILLUMINA	ss171836225	Jul 04, 2010 (132)
38	AFFY	ss173318832	Jul 04, 2010 (132)
39	ILLUMINA	ss173761102	Jul 04, 2010 (132)
40	COMPLETE_GENOMICS	ss175254679	Jul 04, 2010 (132)
41	BUSHMAN	ss198619235	Jul 04, 2010 (132)
42	BCM-HGSC-SUB	ss208088648	Jul 04, 2010 (132)
43	1000GENOMES	ss225930166	Jul 14, 2010 (132)
44	1000GENOMES	ss236066210	Jul 15, 2010 (132)
45	1000GENOMES	ss242597629	Jul 15, 2010 (132)
46	GMI	ss281526628	May 04, 2012 (137)
47	GMI	ss286617585	Apr 25, 2013 (138)
48	PJP	ss291329277	May 09, 2011 (134)
49	ILLUMINA	ss410796313	Sep 17, 2011 (135)
50	ILLUMINA	ss480980265	May 04, 2012 (137)
51	ILLUMINA	ss481000749	May 04, 2012 (137)
52	ILLUMINA	ss481978488	Sep 08, 2015 (146)
53	ILLUMINA	ss485285044	May 04, 2012 (137)
54	ILLUMINA	ss537249646	Sep 08, 2015 (146)
55	TISHKOFF	ss563368052	Apr 25, 2013 (138)
56	SSMP	ss658949715	Apr 25, 2013 (138)
57	ILLUMINA	ss778705635	Aug 21, 2014 (142)
58	ILLUMINA	ss783088432	Aug 21, 2014 (142)
59	ILLUMINA	ss784045896	Aug 21, 2014 (142)
60	ILLUMINA	ss825517323	Apr 01, 2015 (144)
61	ILLUMINA	ss832346877	Apr 01, 2015 (144)
62	ILLUMINA	ss832990786	Aug 21, 2014 (142)
63	ILLUMINA	ss833581615	Aug 21, 2014 (142)
64	ILLUMINA	ss834164704	Aug 21, 2014 (142)
65	EVA-GONL	ss989896211	Aug 21, 2014 (142)
66	JMKIDD_LAB	ss1078726129	Aug 21, 2014 (142)
67	1000GENOMES	ss1346397962	Aug 21, 2014 (142)
68	HAMMER_LAB	ss1397643904	Sep 08, 2015 (146)
69	DDI	ss1427036435	Apr 01, 2015 (144)
70	EVA_GENOME_DK	ss1576487440	Apr 01, 2015 (144)
71	EVA_UK10K_ALSPAC	ss1629313814	Apr 01, 2015 (144)
72	EVA_DECODE	ss1641998921	Apr 01, 2015 (144)
73	EVA_UK10K_TWINSUK	ss1672307847	Apr 01, 2015 (144)
74	EVA_SVP	ss1713353034	Apr 01, 2015 (144)
75	ILLUMINA	ss1752042658	Sep 08, 2015 (146)
76	HAMMER_LAB	ss1807393013	Sep 08, 2015 (146)
77	WEILL_CORNELL_DGM	ss1933250526	Feb 12, 2016 (147)
78	GENOMED	ss1967668509	Jul 19, 2016 (147)
79	JJLAB	ss2027381623	Sep 14, 2016 (149)
80	ILLUMINA	ss2095038727	Dec 20, 2016 (150)
81	USC_VALOUEV	ss2155728006	Dec 20, 2016 (150)
82	HUMAN_LONGEVITY	ss2192681966	Dec 20, 2016 (150)
83	SYSTEMSBIOZJU	ss2628171503	Nov 08, 2017 (151)
84	ILLUMINA	ss2633000721	Nov 08, 2017 (151)
85	ILLUMINA	ss2633000722	Nov 08, 2017 (151)
86	GRF	ss2700084989	Nov 08, 2017 (151)
87	GNOMAD	ss2914495579	Nov 08, 2017 (151)
88	SWEGEN	ss3010250405	Nov 08, 2017 (151)
89	BIOINF_KMB_FNS_UNIBA	ss3027501181	Nov 08, 2017 (151)
90	CSHL	ss3350222141	Nov 08, 2017 (151)
91	ILLUMINA	ss3626953801	Oct 12, 2018 (152)
92	ILLUMINA	ss3631007618	Oct 12, 2018 (152)
93	ILLUMINA	ss3633032024	Oct 12, 2018 (152)
94	ILLUMINA	ss3633733436	Oct 12, 2018 (152)
95	ILLUMINA	ss3634520499	Oct 12, 2018 (152)
96	ILLUMINA	ss3635423949	Oct 12, 2018 (152)
97	ILLUMINA	ss3636206557	Oct 12, 2018 (152)
98	ILLUMINA	ss3637174947	Oct 12, 2018 (152)
99	ILLUMINA	ss3637982737	Oct 12, 2018 (152)
100	ILLUMINA	ss3639004734	Oct 12, 2018 (152)
101	ILLUMINA	ss3639505148	Oct 12, 2018 (152)
102	ILLUMINA	ss3640227832	Oct 12, 2018 (152)
103	ILLUMINA	ss3642974664	Oct 12, 2018 (152)
104	URBANLAB	ss3649911349	Oct 12, 2018 (152)
105	ILLUMINA	ss3651841388	Oct 12, 2018 (152)
106	EGCUT_WGS	ss3677545864	Jul 13, 2019 (153)
107	EVA_DECODE	ss3694344926	Jul 13, 2019 (153)
108	ACPOP	ss3739329552	Jul 13, 2019 (153)
109	ILLUMINA	ss3744821296	Jul 13, 2019 (153)
110	EVA	ss3750892466	Jul 13, 2019 (153)
111	ILLUMINA	ss3772320546	Jul 13, 2019 (153)
112	PACBIO	ss3787319570	Jul 13, 2019 (153)
113	PACBIO	ss3792405149	Jul 13, 2019 (153)
114	PACBIO	ss3797288202	Jul 13, 2019 (153)
115	KHV_HUMAN_GENOMES	ss3816226288	Jul 13, 2019 (153)
116	EVA	ss3833296820	Apr 27, 2020 (154)
117	EVA	ss3840220924	Apr 27, 2020 (154)
118	EVA	ss3845709156	Apr 27, 2020 (154)
119	HGDP	ss3847462148	Apr 27, 2020 (154)
120	SGDP_PRJ	ss3878988695	Apr 27, 2020 (154)
121	KRGDB	ss3927713527	Apr 27, 2020 (154)
122	KOGIC	ss3972599955	Apr 27, 2020 (154)
123	EVA	ss3985610615	Apr 26, 2021 (155)
124	EVA	ss4017606911	Apr 26, 2021 (155)
125	TOPMED	ss4930666909	Apr 26, 2021 (155)
126	TOMMO_GENOMICS	ss5207892796	Apr 26, 2021 (155)
127	1000G_HIGH_COVERAGE	ss5292023424	Oct 16, 2022 (156)
128	GENOGRAPHIC	ss5314553217	Oct 16, 2022 (156)
129	EVA	ss5315644716	Oct 16, 2022 (156)
130	EVA	ss5407841859	Oct 16, 2022 (156)
131	HUGCELL_USP	ss5486647013	Oct 16, 2022 (156)
132	1000G_HIGH_COVERAGE	ss5590148282	Oct 16, 2022 (156)
133	SANFORD_IMAGENETICS	ss5653841406	Oct 16, 2022 (156)
134	TOMMO_GENOMICS	ss5758134072	Oct 16, 2022 (156)
135	EVA	ss5799882085	Oct 16, 2022 (156)
136	YY_MCH	ss5813594596	Oct 16, 2022 (156)
137	EVA	ss5838431647	Oct 16, 2022 (156)
138	EVA	ss5850522336	Oct 16, 2022 (156)
139	EVA	ss5905776789	Oct 16, 2022 (156)
140	EVA	ss5945237342	Oct 16, 2022 (156)
141	1000Genomes	NC_000012.11 - 102502759	Oct 12, 2018 (152)
142	1000Genomes_30x	NC_000012.12 - 102108981	Oct 16, 2022 (156)
143	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 102502759	Oct 12, 2018 (152)
144	Genome-wide autozygosity in Daghestan	NC_000012.10 - 101026889	Apr 27, 2020 (154)
145	Genetic variation in the Estonian population	NC_000012.11 - 102502759	Oct 12, 2018 (152)
146	Genographic Project	NC_000012.12 - 102108981	Oct 16, 2022 (156)
147	The Danish reference pan genome	NC_000012.11 - 102502759	Apr 27, 2020 (154)
148	gnomAD - Genomes	NC_000012.12 - 102108981	Apr 26, 2021 (155)
149	Genome of the Netherlands Release 5	NC_000012.11 - 102502759	Apr 27, 2020 (154)
150	HGDP-CEPH-db Supplement 1	NC_000012.10 - 101026889	Apr 27, 2020 (154)
151	KOREAN population from KRGDB	NC_000012.11 - 102502759	Apr 27, 2020 (154)
152	Korean Genome Project	NC_000012.12 - 102108981	Apr 27, 2020 (154)
153	Northern Sweden	NC_000012.11 - 102502759	Jul 13, 2019 (153)
154	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 102502759	Apr 26, 2021 (155)
155	Qatari	NC_000012.11 - 102502759	Apr 27, 2020 (154)
156	SGDP_PRJ	NC_000012.11 - 102502759	Apr 27, 2020 (154)
157	Siberian	NC_000012.11 - 102502759	Apr 27, 2020 (154)
158	8.3KJPN	NC_000012.11 - 102502759	Apr 26, 2021 (155)
159	14KJPN	NC_000012.12 - 102108981	Oct 16, 2022 (156)
160	TopMed	NC_000012.12 - 102108981	Apr 26, 2021 (155)
161	UK 10K study - Twins	NC_000012.11 - 102502759	Oct 12, 2018 (152)
162	A Vietnamese Genetic Variation Database	NC_000012.11 - 102502759	Jul 13, 2019 (153)
163	ALFA	NC_000012.12 - 102108981	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)
rs17438290	Oct 08, 2004 (123)
rs61350399	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80073424, ss3639004734, ss3639505148	NC_000012.9:101005225:T:C	NC_000012.12:102108980:T:C	(self)
114679, 140040, ss66518199, ss76340728, ss89356413, ss112398535, ss114025512, ss119684243, ss160691089, ss168683648, ss170786077, ss173318832, ss175254679, ss198619235, ss208088648, ss281526628, ss286617585, ss291329277, ss410796313, ss480980265, ss825517323, ss1397643904, ss1641998921, ss1713353034, ss3642974664, ss3847462148	NC_000012.10:101026888:T:C	NC_000012.12:102108980:T:C	(self)
59199958, 32871522, 23284112, 3103350, 14666257, 34890921, 12614417, 836542, 15292456, 31005675, 8244360, 65862103, 32871522, 7296972, ss225930166, ss236066210, ss242597629, ss481000749, ss481978488, ss485285044, ss537249646, ss563368052, ss658949715, ss778705635, ss783088432, ss784045896, ss832346877, ss832990786, ss833581615, ss834164704, ss989896211, ss1078726129, ss1346397962, ss1427036435, ss1576487440, ss1629313814, ss1672307847, ss1752042658, ss1807393013, ss1933250526, ss1967668509, ss2027381623, ss2095038727, ss2155728006, ss2628171503, ss2633000721, ss2633000722, ss2700084989, ss2914495579, ss3010250405, ss3350222141, ss3626953801, ss3631007618, ss3633032024, ss3633733436, ss3634520499, ss3635423949, ss3636206557, ss3637174947, ss3637982737, ss3640227832, ss3651841388, ss3677545864, ss3739329552, ss3744821296, ss3750892466, ss3772320546, ss3787319570, ss3792405149, ss3797288202, ss3833296820, ss3840220924, ss3878988695, ss3927713527, ss3985610615, ss4017606911, ss5207892796, ss5315644716, ss5407841859, ss5653841406, ss5799882085, ss5838431647, ss5945237342	NC_000012.11:102502758:T:C	NC_000012.12:102108980:T:C	(self)
77674217, 70449, 417582615, 28977956, 91971176, 146212566, 7846899890, ss2192681966, ss3027501181, ss3649911349, ss3694344926, ss3816226288, ss3845709156, ss3972599955, ss4930666909, ss5292023424, ss5314553217, ss5486647013, ss5590148282, ss5758134072, ss5813594596, ss5850522336, ss5905776789	NC_000012.12:102108980:T:C	NC_000012.12:102108980:T:C	(self)
ss11026143, ss12199963, ss17472716, ss19250727	NT_019546.15:25984948:T:C	NC_000012.12:102108980:T:C	(self)
ss6251970, ss14902501, ss24455206, ss38894942, ss65932607, ss66683813, ss67350065, ss67741688, ss69118857, ss70811557, ss71391858, ss75591547, ss79186805, ss84298611, ss97335980, ss105116221, ss122338050, ss132053394, ss133335497, ss154302499, ss157850122, ss159479344, ss171836225, ss173761102	NT_029419.12:64646064:T:C	NC_000012.12:102108980:T:C	(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 rs4611262

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4611262