Name: rs12282
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.

rs12282

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:132769223 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.092361 (24447/264690, TOPMED)
T=0.126953 (26035/205076, GENOGRAPHIC)
T=0.104797 (14649/139784, GnomAD) (+ 19 more)
T=0.131217 (13224/100780, ALFA)
T=0.1043 (668/6404, 1000G_30x)
T=0.1074 (538/5008, 1000G)
T=0.1618 (724/4476, Estonian)
T=0.1266 (488/3854, ALSPAC)
T=0.1257 (466/3708, TWINSUK)
T=0.0852 (249/2922, KOREAN)
T=0.1158 (239/2064, HGDP_Stanford)
T=0.0979 (176/1798, HapMap)
T=0.0822 (147/1788, Korea1K)
T=0.139 (139/998, GoNL)
T=0.122 (95/776, PRJEB37584)
T=0.132 (79/598, NorthernSweden)
T=0.042 (9/216, Qatari)
T=0.117 (25/214, Vietnamese)
C=0.449 (53/118, SGDP_PRJ)
T=0.07 (6/84, Ancient Sardinia)
C=0.50 (6/12, Siberian)
T=0.50 (6/12, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GOLGA3 : 3 Prime UTR Variant
Publications: 1 citation
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	100874	C=0.868836	T=0.131164
European	Sub	85208	C=0.86492	T=0.13508
African	Sub	5184	C=0.9375	T=0.0625
African Others	Sub	178	C=0.955	T=0.045
African American	Sub	5006	C=0.9369	T=0.0631
Asian	Sub	272	C=0.904	T=0.096
East Asian	Sub	230	C=0.926	T=0.074
Other Asian	Sub	42	C=0.79	T=0.21
Latin American 1	Sub	254	C=0.925	T=0.075
Latin American 2	Sub	1262	C=0.9501	T=0.0499
South Asian	Sub	4968	C=0.8213	T=0.1787
Other	Sub	3726	C=0.8924	T=0.1076

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.907639	T=0.092361
Genographic Project	Global	Study-wide	205076	C=0.873047	T=0.126953
gnomAD - Genomes	Global	Study-wide	139784	C=0.895203	T=0.104797
gnomAD - Genomes	European	Sub	75646	C=0.86154	T=0.13846
gnomAD - Genomes	African	Sub	42030	C=0.93869	T=0.06131
gnomAD - Genomes	American	Sub	13592	C=0.94004	T=0.05996
gnomAD - Genomes	Ashkenazi Jewish	Sub	3298	C=0.9263	T=0.0737
gnomAD - Genomes	East Asian	Sub	3070	C=0.8863	T=0.1137
gnomAD - Genomes	Other	Sub	2148	C=0.9111	T=0.0889
Allele Frequency Aggregator	Total	Global	100780	C=0.868783	T=0.131217
Allele Frequency Aggregator	European	Sub	85132	C=0.86487	T=0.13513
Allele Frequency Aggregator	African	Sub	5184	C=0.9375	T=0.0625
Allele Frequency Aggregator	South Asian	Sub	4968	C=0.8213	T=0.1787
Allele Frequency Aggregator	Other	Sub	3708	C=0.8921	T=0.1079
Allele Frequency Aggregator	Latin American 2	Sub	1262	C=0.9501	T=0.0499
Allele Frequency Aggregator	Asian	Sub	272	C=0.904	T=0.096
Allele Frequency Aggregator	Latin American 1	Sub	254	C=0.925	T=0.075
1000Genomes_30x	Global	Study-wide	6404	C=0.8955	G=0.0002, T=0.1043
1000Genomes_30x	African	Sub	1786	C=0.9485	G=0.0000, T=0.0515
1000Genomes_30x	Europe	Sub	1266	C=0.8657	G=0.0000, T=0.1343
1000Genomes_30x	South Asian	Sub	1202	C=0.8286	G=0.0000, T=0.1714
1000Genomes_30x	East Asian	Sub	1170	C=0.8692	G=0.0009, T=0.1299
1000Genomes_30x	American	Sub	980	C=0.951	G=0.000, T=0.049
1000Genomes	Global	Study-wide	5008	C=0.8926	T=0.1074
1000Genomes	African	Sub	1322	C=0.9455	T=0.0545
1000Genomes	East Asian	Sub	1008	C=0.8750	T=0.1250
1000Genomes	Europe	Sub	1006	C=0.8638	T=0.1362
1000Genomes	South Asian	Sub	978	C=0.828	T=0.172
1000Genomes	American	Sub	694	C=0.950	T=0.050
Genetic variation in the Estonian population	Estonian	Study-wide	4476	C=0.8382	T=0.1618
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8734	T=0.1266
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8743	T=0.1257
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9148	T=0.0852
HGDP-CEPH-db Supplement 1	Global	Study-wide	2064	C=0.8842	T=0.1158
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	460	C=0.843	T=0.157
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	412	C=0.845	T=0.155
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	C=0.888	T=0.112
HGDP-CEPH-db Supplement 1	Europe	Sub	318	C=0.890	T=0.110
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.888	T=0.112
HGDP-CEPH-db Supplement 1	America	Sub	214	C=1.000	T=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	70	C=0.97	T=0.03
HapMap	Global	Study-wide	1798	C=0.9021	T=0.0979
HapMap	American	Sub	764	C=0.880	T=0.120
HapMap	African	Sub	692	C=0.938	T=0.062
HapMap	Europe	Sub	174	C=0.868	T=0.132
HapMap	Asian	Sub	168	C=0.893	T=0.107
Korean Genome Project	KOREAN	Study-wide	1788	C=0.9178	T=0.0822
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.861	T=0.139
CNV burdens in cranial meningiomas	Global	Study-wide	776	C=0.878	T=0.122
CNV burdens in cranial meningiomas	CRM	Sub	776	C=0.878	T=0.122
Northern Sweden	ACPOP	Study-wide	598	C=0.868	T=0.132
Qatari	Global	Study-wide	216	C=0.958	T=0.042
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.883	T=0.117
SGDP_PRJ	Global	Study-wide	118	C=0.449	T=0.551
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	84	C=0.93	T=0.07
Siberian	Global	Study-wide	12	C=0.50	T=0.50

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.132769223C>G
GRCh38.p14 chr 12	NC_000012.12:g.132769223C>T
GRCh37.p13 chr 12	NC_000012.11:g.133345809C>G
GRCh37.p13 chr 12	NC_000012.11:g.133345809C>T
GOLGA3 RefSeqGene	NG_029887.1:g.64618G>C
GOLGA3 RefSeqGene	NG_029887.1:g.64618G>A

Gene: GOLGA3, golgin A3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GOLGA3 transcript variant 1	NM_005895.4:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant 6	NM_001389686.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant 7	NM_001389687.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant 5	NM_001389685.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant 9	NM_001389689.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant 4	NM_001389684.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant 3	NM_001389683.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant 8	NM_001389688.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant 2	NM_001172557.2:c.	N/A	Genic Downstream Transcript Variant
GOLGA3 transcript variant X1	XM_047428705.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant X2	XM_024448940.2:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant X3	XM_024448941.2:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant X4	XM_047428706.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant X5	XM_047428707.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant X6	XM_047428708.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant X7	XM_047428709.1:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant X8	XM_005266167.5:c.*3882=	N/A	3 Prime UTR Variant
GOLGA3 transcript variant X9	XM_011534794.3:c.*3882=	N/A	3 Prime UTR 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	C=	G	T
GRCh38.p14 chr 12	NC_000012.12:g.132769223=	NC_000012.12:g.132769223C>G	NC_000012.12:g.132769223C>T
GRCh37.p13 chr 12	NC_000012.11:g.133345809=	NC_000012.11:g.133345809C>G	NC_000012.11:g.133345809C>T
GOLGA3 RefSeqGene	NG_029887.1:g.64618=	NG_029887.1:g.64618G>C	NG_029887.1:g.64618G>A
GOLGA3 transcript variant 1	NM_005895.4:c.*3882=	NM_005895.4:c.*3882G>C	NM_005895.4:c.*3882G>A
GOLGA3 transcript variant 1	NM_005895.3:c.*3882=	NM_005895.3:c.*3882G>C	NM_005895.3:c.*3882G>A
GOLGA3 transcript variant 5	NM_001389685.1:c.*3882=	NM_001389685.1:c.*3882G>C	NM_001389685.1:c.*3882G>A
GOLGA3 transcript variant 7	NM_001389687.1:c.*3882=	NM_001389687.1:c.*3882G>C	NM_001389687.1:c.*3882G>A
GOLGA3 transcript variant 8	NM_001389688.1:c.*3882=	NM_001389688.1:c.*3882G>C	NM_001389688.1:c.*3882G>A
GOLGA3 transcript variant 3	NM_001389683.1:c.*3882=	NM_001389683.1:c.*3882G>C	NM_001389683.1:c.*3882G>A
GOLGA3 transcript variant 4	NM_001389684.1:c.*3882=	NM_001389684.1:c.*3882G>C	NM_001389684.1:c.*3882G>A
GOLGA3 transcript variant 6	NM_001389686.1:c.*3882=	NM_001389686.1:c.*3882G>C	NM_001389686.1:c.*3882G>A
GOLGA3 transcript variant 9	NM_001389689.1:c.*3882=	NM_001389689.1:c.*3882G>C	NM_001389689.1:c.*3882G>A
GOLGA3 transcript variant X8	XM_005266167.5:c.*3882=	XM_005266167.5:c.*3882G>C	XM_005266167.5:c.*3882G>A
GOLGA3 transcript variant X10	XM_005266167.4:c.*3882=	XM_005266167.4:c.*3882G>C	XM_005266167.4:c.*3882G>A
GOLGA3 transcript variant X11	XM_005266167.3:c.*3882=	XM_005266167.3:c.*3882G>C	XM_005266167.3:c.*3882G>A
GOLGA3 transcript variant X6	XM_005266167.2:c.*3882=	XM_005266167.2:c.*3882G>C	XM_005266167.2:c.*3882G>A
GOLGA3 transcript variant X6	XM_005266167.1:c.*3882=	XM_005266167.1:c.*3882G>C	XM_005266167.1:c.*3882G>A
GOLGA3 transcript variant X9	XM_011534794.3:c.*3882=	XM_011534794.3:c.*3882G>C	XM_011534794.3:c.*3882G>A
GOLGA3 transcript variant X11	XM_011534794.2:c.*3882=	XM_011534794.2:c.*3882G>C	XM_011534794.2:c.*3882G>A
GOLGA3 transcript variant X12	XM_011534794.1:c.*3882=	XM_011534794.1:c.*3882G>C	XM_011534794.1:c.*3882G>A
GOLGA3 transcript variant X3	XM_024448941.2:c.*3882=	XM_024448941.2:c.*3882G>C	XM_024448941.2:c.*3882G>A
GOLGA3 transcript variant X4	XM_024448941.1:c.*3882=	XM_024448941.1:c.*3882G>C	XM_024448941.1:c.*3882G>A
GOLGA3 transcript variant X2	XM_024448940.2:c.*3882=	XM_024448940.2:c.*3882G>C	XM_024448940.2:c.*3882G>A
GOLGA3 transcript variant X3	XM_024448940.1:c.*3882=	XM_024448940.1:c.*3882G>C	XM_024448940.1:c.*3882G>A
GOLGA3 transcript variant X7	XM_047428709.1:c.*3882=	XM_047428709.1:c.*3882G>C	XM_047428709.1:c.*3882G>A
GOLGA3 transcript variant X1	XM_047428705.1:c.*3882=	XM_047428705.1:c.*3882G>C	XM_047428705.1:c.*3882G>A
GOLGA3 transcript variant X6	XM_047428708.1:c.*3882=	XM_047428708.1:c.*3882G>C	XM_047428708.1:c.*3882G>A
GOLGA3 transcript variant X5	XM_047428707.1:c.*3882=	XM_047428707.1:c.*3882G>C	XM_047428707.1:c.*3882G>A
GOLGA3 transcript variant X4	XM_047428706.1:c.*3882=	XM_047428706.1:c.*3882G>C	XM_047428706.1:c.*3882G>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#.

100 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CGAP-GAI	ss14548	Sep 19, 2000 (52)
2	LEE	ss1510993	Oct 04, 2000 (86)
3	LEE	ss4404696	May 29, 2002 (106)
4	PERLEGEN	ss24495382	Sep 20, 2004 (123)
5	ILLUMINA	ss66828073	Dec 01, 2006 (127)
6	ILLUMINA	ss66995499	Dec 01, 2006 (127)
7	ILLUMINA	ss67172075	Dec 01, 2006 (127)
8	PERLEGEN	ss69126393	May 18, 2007 (127)
9	ILLUMINA	ss70407474	May 18, 2007 (127)
10	ILLUMINA	ss70562381	May 24, 2008 (130)
11	ILLUMINA	ss71101112	May 18, 2007 (127)
12	ILLUMINA	ss75884759	Dec 07, 2007 (129)
13	KRIBB_YJKIM	ss83350276	Dec 15, 2007 (130)
14	BGI	ss106314960	Feb 05, 2009 (130)
15	ILLUMINA	ss121551188	Dec 01, 2009 (131)
16	ILLUMINA	ss153166429	Dec 01, 2009 (131)
17	ILLUMINA	ss159210943	Dec 01, 2009 (131)
18	ILLUMINA	ss170087681	Jul 04, 2010 (132)
19	ILLUMINA	ss171977874	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss175317550	Jul 04, 2010 (132)
21	GMI	ss281613932	May 04, 2012 (137)
22	1000GENOMES	ss463218387	Sep 17, 2011 (135)
23	ILLUMINA	ss483027980	May 04, 2012 (137)
24	ILLUMINA	ss484185065	May 04, 2012 (137)
25	ILLUMINA	ss536373404	Sep 08, 2015 (146)
26	TISHKOFF	ss563516583	Apr 25, 2013 (138)
27	ILLUMINA	ss780558722	Sep 08, 2015 (146)
28	ILLUMINA	ss782538443	Sep 08, 2015 (146)
29	ILLUMINA	ss825376748	Apr 01, 2015 (144)
30	ILLUMINA	ss832723354	Jul 13, 2019 (153)
31	ILLUMINA	ss836050937	Sep 08, 2015 (146)
32	EVA-GONL	ss990134762	Aug 21, 2014 (142)
33	1000GENOMES	ss1347296667	Aug 21, 2014 (142)
34	EVA_UK10K_ALSPAC	ss1629792191	Apr 01, 2015 (144)
35	EVA_DECODE	ss1642242703	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1672786224	Apr 01, 2015 (144)
37	EVA_SVP	ss1713371606	Apr 01, 2015 (144)
38	HAMMER_LAB	ss1807500074	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1933498674	Feb 12, 2016 (147)
40	ILLUMINA	ss1946354986	Feb 12, 2016 (147)
41	ILLUMINA	ss1959482193	Feb 12, 2016 (147)
42	JJLAB	ss2027503668	Sep 14, 2016 (149)
43	USC_VALOUEV	ss2155865073	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2194524588	Dec 20, 2016 (150)
45	ILLUMINA	ss2633032735	Nov 08, 2017 (151)
46	ILLUMINA	ss2633032736	Nov 08, 2017 (151)
47	GRF	ss2700231048	Nov 08, 2017 (151)
48	ILLUMINA	ss2710777069	Nov 08, 2017 (151)
49	GNOMAD	ss2917024633	Nov 08, 2017 (151)
50	AFFY	ss2984997224	Nov 08, 2017 (151)
51	AFFY	ss2985632529	Nov 08, 2017 (151)
52	SWEGEN	ss3010624705	Nov 08, 2017 (151)
53	ILLUMINA	ss3021485413	Nov 08, 2017 (151)
54	BIOINF_KMB_FNS_UNIBA	ss3027565251	Nov 08, 2017 (151)
55	CSHL	ss3350333606	Nov 08, 2017 (151)
56	ILLUMINA	ss3627010607	Oct 12, 2018 (152)
57	ILLUMINA	ss3631037646	Oct 12, 2018 (152)
58	ILLUMINA	ss3637997328	Oct 12, 2018 (152)
59	ILLUMINA	ss3639011438	Oct 12, 2018 (152)
60	ILLUMINA	ss3639508870	Oct 12, 2018 (152)
61	ILLUMINA	ss3641824965	Oct 12, 2018 (152)
62	ILLUMINA	ss3642988225	Oct 12, 2018 (152)
63	OMUKHERJEE_ADBS	ss3646450071	Oct 12, 2018 (152)
64	ILLUMINA	ss3651870084	Oct 12, 2018 (152)
65	ILLUMINA	ss3653767508	Oct 12, 2018 (152)
66	EGCUT_WGS	ss3677918662	Jul 13, 2019 (153)
67	EVA_DECODE	ss3694809182	Jul 13, 2019 (153)
68	ILLUMINA	ss3725373957	Jul 13, 2019 (153)
69	ACPOP	ss3739532073	Jul 13, 2019 (153)
70	ILLUMINA	ss3744107949	Jul 13, 2019 (153)
71	EVA	ss3751173845	Jul 13, 2019 (153)
72	KHV_HUMAN_GENOMES	ss3816499740	Jul 13, 2019 (153)
73	EVA	ss3833418004	Apr 27, 2020 (154)
74	HGDP	ss3847470028	Apr 27, 2020 (154)
75	SGDP_PRJ	ss3879477241	Apr 27, 2020 (154)
76	KRGDB	ss3928276015	Apr 27, 2020 (154)
77	KOGIC	ss3973089018	Apr 27, 2020 (154)
78	EVA	ss3984676261	Apr 26, 2021 (155)
79	EVA	ss3985625838	Apr 26, 2021 (155)
80	EVA	ss3986061734	Apr 26, 2021 (155)
81	EVA	ss4017620126	Apr 26, 2021 (155)
82	TOPMED	ss4938211241	Apr 26, 2021 (155)
83	TOMMO_GENOMICS	ss5208941899	Apr 26, 2021 (155)
84	TOMMO_GENOMICS	ss5208941900	Apr 26, 2021 (155)
85	1000G_HIGH_COVERAGE	ss5292826242	Oct 16, 2022 (156)
86	GENOGRAPHIC	ss5314554742	Oct 16, 2022 (156)
87	EVA	ss5315664428	Oct 16, 2022 (156)
88	EVA	ss5409296050	Oct 16, 2022 (156)
89	HUGCELL_USP	ss5487363825	Oct 16, 2022 (156)
90	1000G_HIGH_COVERAGE	ss5591315769	Oct 16, 2022 (156)
91	SANFORD_IMAGENETICS	ss5624317721	Oct 16, 2022 (156)
92	SANFORD_IMAGENETICS	ss5654291393	Oct 16, 2022 (156)
93	TOMMO_GENOMICS	ss5759512099	Oct 16, 2022 (156)
94	TOMMO_GENOMICS	ss5759512100	Oct 16, 2022 (156)
95	YY_MCH	ss5813796275	Oct 16, 2022 (156)
96	EVA	ss5847419780	Oct 16, 2022 (156)
97	EVA	ss5847690319	Oct 16, 2022 (156)
98	EVA	ss5850622544	Oct 16, 2022 (156)
99	EVA	ss5906688420	Oct 16, 2022 (156)
100	EVA	ss5945704375	Oct 16, 2022 (156)
101	1000Genomes	NC_000012.11 - 133345809	Oct 12, 2018 (152)
102	1000Genomes_30x	NC_000012.12 - 132769223	Oct 16, 2022 (156)
103	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 133345809	Oct 12, 2018 (152)
104	Genetic variation in the Estonian population	NC_000012.11 - 133345809	Oct 12, 2018 (152)
105	Genographic Project	NC_000012.12 - 132769223	Oct 16, 2022 (156)
106	gnomAD - Genomes	NC_000012.12 - 132769223	Apr 26, 2021 (155)
107	Genome of the Netherlands Release 5	NC_000012.11 - 133345809	Apr 27, 2020 (154)
108	HGDP-CEPH-db Supplement 1	NC_000012.10 - 131855882	Apr 27, 2020 (154)
109	HapMap	NC_000012.12 - 132769223	Apr 27, 2020 (154)
110	KOREAN population from KRGDB	NC_000012.11 - 133345809	Apr 27, 2020 (154)
111	Korean Genome Project	NC_000012.12 - 132769223	Apr 27, 2020 (154)
112	Northern Sweden	NC_000012.11 - 133345809	Jul 13, 2019 (153)
113	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 133345809	Apr 26, 2021 (155)
114	CNV burdens in cranial meningiomas	NC_000012.11 - 133345809	Apr 26, 2021 (155)
115	Qatari	NC_000012.11 - 133345809	Apr 27, 2020 (154)
116	SGDP_PRJ	NC_000012.11 - 133345809	Apr 27, 2020 (154)
117	Siberian	NC_000012.11 - 133345809	Apr 27, 2020 (154)
118	8.3KJPN Submission ignored due to conflicting rows: Row 66911206 (NC_000012.11:133345808:C:T 1518/16496) Row 66911207 (NC_000012.11:133345808:C:G 2/16496)	-	Apr 26, 2021 (155)
119	8.3KJPN Submission ignored due to conflicting rows: Row 66911206 (NC_000012.11:133345808:C:T 1518/16496) Row 66911207 (NC_000012.11:133345808:C:G 2/16496)	-	Apr 26, 2021 (155)
120	14KJPN Submission ignored due to conflicting rows: Row 93349203 (NC_000012.12:132769222:C:T 2586/28258) Row 93349204 (NC_000012.12:132769222:C:G 3/28258)	-	Oct 16, 2022 (156)
121	14KJPN Submission ignored due to conflicting rows: Row 93349203 (NC_000012.12:132769222:C:T 2586/28258) Row 93349204 (NC_000012.12:132769222:C:G 3/28258)	-	Oct 16, 2022 (156)
122	TopMed	NC_000012.12 - 132769223	Apr 26, 2021 (155)
123	UK 10K study - Twins	NC_000012.11 - 133345809	Oct 12, 2018 (152)
124	A Vietnamese Genetic Variation Database	NC_000012.11 - 133345809	Jul 13, 2019 (153)
125	ALFA	NC_000012.12 - 132769223	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)
rs3182617	Jul 03, 2002 (106)
rs17708336	Oct 08, 2004 (123)
rs58634441	May 24, 2008 (130)
rs116948953	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5208941900	NC_000012.11:133345808:C:G	NC_000012.12:132769222:C:G	(self)
78841704, ss5591315769, ss5759512100	NC_000012.12:132769222:C:G	NC_000012.12:132769222:C:G
ss3639011438, ss3639508870	NC_000012.9:131956158:C:T	NC_000012.12:132769222:C:T	(self)
147920, ss175317550, ss281613932, ss483027980, ss825376748, ss1642242703, ss1713371606, ss3642988225, ss3847470028	NC_000012.10:131855881:C:T	NC_000012.12:132769222:C:T	(self)
60131953, 33399806, 23656910, 14895242, 35453409, 12816938, 851765, 225758, 15540604, 31494221, 8381427, 33399806, 7407910, ss463218387, ss484185065, ss536373404, ss563516583, ss780558722, ss782538443, ss832723354, ss836050937, ss990134762, ss1347296667, ss1629792191, ss1672786224, ss1807500074, ss1933498674, ss1946354986, ss1959482193, ss2027503668, ss2155865073, ss2633032735, ss2633032736, ss2700231048, ss2710777069, ss2917024633, ss2984997224, ss2985632529, ss3010624705, ss3021485413, ss3350333606, ss3627010607, ss3631037646, ss3637997328, ss3641824965, ss3646450071, ss3651870084, ss3653767508, ss3677918662, ss3739532073, ss3744107949, ss3751173845, ss3833418004, ss3879477241, ss3928276015, ss3984676261, ss3985625838, ss3986061734, ss4017620126, ss5208941899, ss5315664428, ss5409296050, ss5624317721, ss5654291393, ss5847419780, ss5847690319, ss5945704375	NC_000012.11:133345808:C:T	NC_000012.12:132769222:C:T	(self)
78841704, 101211, 424011223, 937757, 29467019, 153756898, 10138669720, ss2194524588, ss3027565251, ss3694809182, ss3725373957, ss3816499740, ss3973089018, ss4938211241, ss5292826242, ss5314554742, ss5487363825, ss5591315769, ss5759512099, ss5813796275, ss5850622544, ss5906688420	NC_000012.12:132769222:C:T	NC_000012.12:132769222:C:T	(self)
ss14548, ss1510993, ss4404696, ss24495382, ss66828073, ss66995499, ss67172075, ss69126393, ss70407474, ss70562381, ss71101112, ss75884759, ss83350276, ss106314960, ss121551188, ss153166429, ss159210943, ss170087681, ss171977874	NT_024477.14:538816:C:T	NC_000012.12:132769222:C:T	(self)

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

1 citation for rs12282

PMID	Title	Author	Year	Journal
22542470	Genome-wide association study of antibody response to smallpox vaccine.	Ovsyannikova IG et al.	2012	Vaccine

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

rs12282