Name: rs12821256
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.

rs12821256

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:88934558 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.088700 (28991/326842, ALFA)
C=0.057917 (15330/264690, TOPMED)
C=0.02084 (1640/78694, PAGE_STUDY) (+ 17 more)
C=0.0306 (196/6404, 1000G_30x)
C=0.0317 (159/5008, 1000G)
C=0.1259 (564/4480, Estonian)
C=0.1186 (457/3854, ALSPAC)
C=0.1208 (448/3708, TWINSUK)
C=0.0197 (41/2082, HGDP_Stanford)
C=0.0310 (35/1128, Daghestan)
C=0.125 (125/998, GoNL)
C=0.048 (47/984, HapMap)
C=0.024 (15/626, Chileans)
C=0.235 (141/600, NorthernSweden)
C=0.037 (8/216, Qatari)
C=0.00 (0/54, Ancient Sardinia)
C=0.12 (5/40, GENOME_DK)
T=0.42 (11/26, SGDP_PRJ)
T=0.5 (4/8, Siberian)
C=0.5 (4/8, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: None
Publications: 15 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	326964	T=0.911299	A=0.000000, C=0.088701, G=0.000000
European	Sub	282274	T=0.902350	A=0.000000, C=0.097650, G=0.000000
African	Sub	8390	T=0.9847	A=0.0000, C=0.0153, G=0.0000
African Others	Sub	318	T=1.000	A=0.000, C=0.000, G=0.000
African American	Sub	8072	T=0.9841	A=0.0000, C=0.0159, G=0.0000
Asian	Sub	6882	T=0.9999	A=0.0000, C=0.0001, G=0.0000
East Asian	Sub	4944	T=0.9998	A=0.0000, C=0.0002, G=0.0000
Other Asian	Sub	1938	T=1.0000	A=0.0000, C=0.0000, G=0.0000
Latin American 1	Sub	1122	T=0.9439	A=0.0000, C=0.0561, G=0.0000
Latin American 2	Sub	7198	T=0.9797	A=0.0000, C=0.0203, G=0.0000
South Asian	Sub	5226	T=0.9851	A=0.0000, C=0.0149, G=0.0000
Other	Sub	15872	T=0.93561	A=0.00000, C=0.06439, G=0.00000

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	326842	T=0.911300	A=0.000000, C=0.088700, G=0.000000
Allele Frequency Aggregator	European	Sub	282170	T=0.902350	A=0.000000, C=0.097650, G=0.000000
Allele Frequency Aggregator	Other	Sub	15868	T=0.93566	A=0.00000, C=0.06434, G=0.00000
Allele Frequency Aggregator	African	Sub	8376	T=0.9847	A=0.0000, C=0.0153, G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	7198	T=0.9797	A=0.0000, C=0.0203, G=0.0000
Allele Frequency Aggregator	Asian	Sub	6882	T=0.9999	A=0.0000, C=0.0001, G=0.0000
Allele Frequency Aggregator	South Asian	Sub	5226	T=0.9851	A=0.0000, C=0.0149, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1122	T=0.9439	A=0.0000, C=0.0561, G=0.0000
TopMed	Global	Study-wide	264690	T=0.942083	C=0.057917
The PAGE Study	Global	Study-wide	78694	T=0.97916	C=0.02084
The PAGE Study	AfricanAmerican	Sub	32512	T=0.97979	C=0.02021
The PAGE Study	Mexican	Sub	10810	T=0.97734	C=0.02266
The PAGE Study	Asian	Sub	8314	T=0.9998	C=0.0002
The PAGE Study	PuertoRican	Sub	7918	T=0.9686	C=0.0314
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9775	C=0.0225
The PAGE Study	Cuban	Sub	4230	T=0.9678	C=0.0322
The PAGE Study	Dominican	Sub	3828	T=0.9781	C=0.0219
The PAGE Study	CentralAmerican	Sub	2450	T=0.9804	C=0.0196
The PAGE Study	SouthAmerican	Sub	1982	T=0.9834	C=0.0166
The PAGE Study	NativeAmerican	Sub	1260	T=0.9429	C=0.0571
The PAGE Study	SouthAsian	Sub	856	T=0.986	C=0.014
1000Genomes_30x	Global	Study-wide	6404	T=0.9694	C=0.0306
1000Genomes_30x	African	Sub	1786	T=0.9978	C=0.0022
1000Genomes_30x	Europe	Sub	1266	T=0.8823	C=0.1177
1000Genomes_30x	South Asian	Sub	1202	T=0.9842	C=0.0158
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.976	C=0.024
1000Genomes	Global	Study-wide	5008	T=0.9683	C=0.0317
1000Genomes	African	Sub	1322	T=0.9977	C=0.0023
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.8787	C=0.1213
1000Genomes	South Asian	Sub	978	T=0.984	C=0.016
1000Genomes	American	Sub	694	T=0.974	C=0.026
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8741	C=0.1259
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8814	C=0.1186
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8792	C=0.1208
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.9803	C=0.0197
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.996	C=0.004
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.973	C=0.027
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	T=0.983	C=0.017
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.934	C=0.066
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.996	C=0.004
HGDP-CEPH-db Supplement 1	America	Sub	216	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=1.00	C=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1128	T=0.9690	C=0.0310
Genome-wide autozygosity in Daghestan	Daghestan	Sub	622	T=0.977	C=0.023
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.993	C=0.007
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	T=0.967	C=0.033
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.880	C=0.120
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.99	C=0.01
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.94	C=0.06
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.875	C=0.125
HapMap	Global	Study-wide	984	T=0.952	C=0.048
HapMap	American	Sub	600	T=0.933	C=0.067
HapMap	Europe	Sub	176	T=0.960	C=0.040
HapMap	African	Sub	120	T=1.000	C=0.000
HapMap	Asian	Sub	88	T=1.00	C=0.00
Chileans	Chilean	Study-wide	626	T=0.976	C=0.024
Northern Sweden	ACPOP	Study-wide	600	T=0.765	C=0.235
Qatari	Global	Study-wide	216	T=0.963	C=0.037
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	54	T=1.00	C=0.00
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
SGDP_PRJ	Global	Study-wide	26	T=0.42	C=0.58
Siberian	Global	Study-wide	8	T=0.5	C=0.5

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.88934558T>A
GRCh38.p14 chr 12	NC_000012.12:g.88934558T>C
GRCh38.p14 chr 12	NC_000012.12:g.88934558T>G
GRCh37.p13 chr 12	NC_000012.11:g.89328335T>A
GRCh37.p13 chr 12	NC_000012.11:g.89328335T>C
GRCh37.p13 chr 12	NC_000012.11:g.89328335T>G

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: C (allele ID: 27850 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000013659.28	SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN	Affects

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=	A	C	G
GRCh38.p14 chr 12	NC_000012.12:g.88934558=	NC_000012.12:g.88934558T>A	NC_000012.12:g.88934558T>C	NC_000012.12:g.88934558T>G
GRCh37.p13 chr 12	NC_000012.11:g.89328335=	NC_000012.11:g.89328335T>A	NC_000012.11:g.89328335T>C	NC_000012.11:g.89328335T>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#.

122 SubSNP, 22 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss20923720	Apr 05, 2004 (121)
2	ABI	ss38879478	Mar 14, 2006 (126)
3	ILLUMINA	ss66670315	Nov 30, 2006 (127)
4	ILLUMINA	ss67041313	Nov 30, 2006 (127)
5	ILLUMINA	ss67366004	Nov 30, 2006 (127)
6	ILLUMINA	ss70416466	May 17, 2007 (127)
7	ILLUMINA	ss70585846	May 25, 2008 (130)
8	ILLUMINA	ss71128749	May 17, 2007 (127)
9	ILLUMINA	ss75600656	Dec 07, 2007 (129)
10	KRIBB_YJKIM	ss85275907	Dec 15, 2007 (130)
11	HUMANGENOME_JCVI	ss97246196	Feb 06, 2009 (130)
12	1000GENOMES	ss112301419	Jan 25, 2009 (130)
13	ILLUMINA	ss121604528	Dec 01, 2009 (131)
14	ENSEMBL	ss137364256	Dec 01, 2009 (131)
15	ILLUMINA	ss153284972	Dec 01, 2009 (131)
16	ILLUMINA	ss159235861	Dec 01, 2009 (131)
17	ILLUMINA	ss160301541	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss168612494	Jul 04, 2010 (132)
19	ILLUMINA	ss170235977	Jul 04, 2010 (132)
20	ILLUMINA	ss172251584	Jul 04, 2010 (132)
21	1000GENOMES	ss236030445	Jul 15, 2010 (132)
22	BL	ss255282789	May 09, 2011 (134)
23	GMI	ss286603568	Apr 25, 2013 (138)
24	PJP	ss291302322	May 09, 2011 (134)
25	ILLUMINA	ss410902309	Sep 17, 2011 (135)
26	ILLUMINA	ss479825988	May 04, 2012 (137)
27	ILLUMINA	ss479833175	May 04, 2012 (137)
28	ILLUMINA	ss480423001	Sep 08, 2015 (146)
29	ILLUMINA	ss484711461	May 04, 2012 (137)
30	EXOME_CHIP	ss491471734	May 04, 2012 (137)
31	ILLUMINA	ss536815419	Sep 08, 2015 (146)
32	ILLUMINA	ss779032145	Sep 08, 2015 (146)
33	ILLUMINA	ss780681627	Sep 08, 2015 (146)
34	ILLUMINA	ss782802490	Sep 08, 2015 (146)
35	ILLUMINA	ss783354954	Sep 08, 2015 (146)
36	ILLUMINA	ss783767942	Sep 08, 2015 (146)
37	ILLUMINA	ss825385740	Apr 01, 2015 (144)
38	ILLUMINA	ss832055502	Sep 08, 2015 (146)
39	ILLUMINA	ss832748193	Jul 13, 2019 (153)
40	ILLUMINA	ss834494878	Sep 08, 2015 (146)
41	OMIM-CURATED-RECORDS	ss836188746	Oct 23, 2013 (136)
42	EVA-GONL	ss989800643	Aug 21, 2014 (142)
43	1000GENOMES	ss1346039132	Aug 21, 2014 (142)
44	HAMMER_LAB	ss1397640634	Sep 08, 2015 (146)
45	EVA_GENOME_DK	ss1576434243	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1629118799	Apr 01, 2015 (144)
47	EVA_DECODE	ss1641899388	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1672112832	Apr 01, 2015 (144)
49	EVA_SVP	ss1713345845	Apr 01, 2015 (144)
50	ILLUMINA	ss1752084908	Sep 08, 2015 (146)
51	ILLUMINA	ss1752084909	Sep 08, 2015 (146)
52	ILLUMINA	ss1917877074	Feb 12, 2016 (147)
53	WEILL_CORNELL_DGM	ss1933159344	Feb 12, 2016 (147)
54	ILLUMINA	ss1946345586	Feb 12, 2016 (147)
55	ILLUMINA	ss1959453963	Feb 12, 2016 (147)
56	JJLAB	ss2027332347	Sep 14, 2016 (149)
57	ILLUMINA	ss2094793951	Dec 20, 2016 (150)
58	ILLUMINA	ss2095038143	Dec 20, 2016 (150)
59	USC_VALOUEV	ss2155675679	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2191930477	Dec 20, 2016 (150)
61	ILLUMINA	ss2632988803	Nov 08, 2017 (151)
62	ILLUMINA	ss2632988804	Nov 08, 2017 (151)
63	ILLUMINA	ss2632988805	Nov 08, 2017 (151)
64	ILLUMINA	ss2635039084	Nov 08, 2017 (151)
65	GNOMAD	ss2913470787	Nov 08, 2017 (151)
66	AFFY	ss2984986374	Nov 08, 2017 (151)
67	AFFY	ss2985623703	Nov 08, 2017 (151)
68	SWEGEN	ss3010105815	Nov 08, 2017 (151)
69	ILLUMINA	ss3021451931	Nov 08, 2017 (151)
70	BIOINF_KMB_FNS_UNIBA	ss3027475771	Nov 08, 2017 (151)
71	CSHL	ss3350181086	Nov 08, 2017 (151)
72	ILLUMINA	ss3625628225	Oct 12, 2018 (152)
73	ILLUMINA	ss3626932683	Oct 12, 2018 (152)
74	ILLUMINA	ss3626932684	Oct 12, 2018 (152)
75	ILLUMINA	ss3630996304	Oct 12, 2018 (152)
76	ILLUMINA	ss3633028573	Oct 12, 2018 (152)
77	ILLUMINA	ss3633729870	Oct 12, 2018 (152)
78	ILLUMINA	ss3634516146	Oct 12, 2018 (152)
79	ILLUMINA	ss3634516147	Oct 12, 2018 (152)
80	ILLUMINA	ss3635420449	Oct 12, 2018 (152)
81	ILLUMINA	ss3636201948	Oct 12, 2018 (152)
82	ILLUMINA	ss3637171439	Oct 12, 2018 (152)
83	ILLUMINA	ss3637977325	Oct 12, 2018 (152)
84	ILLUMINA	ss3639001876	Oct 12, 2018 (152)
85	ILLUMINA	ss3639503489	Oct 12, 2018 (152)
86	ILLUMINA	ss3640223479	Oct 12, 2018 (152)
87	ILLUMINA	ss3640223480	Oct 12, 2018 (152)
88	ILLUMINA	ss3642969707	Oct 12, 2018 (152)
89	ILLUMINA	ss3644598583	Oct 12, 2018 (152)
90	URBANLAB	ss3649892197	Oct 12, 2018 (152)
91	ILLUMINA	ss3651833037	Oct 12, 2018 (152)
92	ILLUMINA	ss3651833038	Oct 12, 2018 (152)
93	ILLUMINA	ss3653756120	Oct 12, 2018 (152)
94	EGCUT_WGS	ss3677391156	Jul 13, 2019 (153)
95	EVA_DECODE	ss3694165505	Jul 13, 2019 (153)
96	ILLUMINA	ss3725344252	Jul 13, 2019 (153)
97	ACPOP	ss3739247674	Jul 13, 2019 (153)
98	ILLUMINA	ss3744399173	Jul 13, 2019 (153)
99	ILLUMINA	ss3744816944	Jul 13, 2019 (153)
100	ILLUMINA	ss3744816945	Jul 13, 2019 (153)
101	EVA	ss3750782647	Jul 13, 2019 (153)
102	PAGE_CC	ss3771706774	Jul 13, 2019 (153)
103	ILLUMINA	ss3772316202	Jul 13, 2019 (153)
104	ILLUMINA	ss3772316203	Jul 13, 2019 (153)
105	KHV_HUMAN_GENOMES	ss3816117587	Jul 13, 2019 (153)
106	EVA	ss3833250465	Apr 27, 2020 (154)
107	HGDP	ss3847458752	Apr 27, 2020 (154)
108	SGDP_PRJ	ss3878803701	Apr 27, 2020 (154)
109	EVA	ss3985604783	Apr 26, 2021 (155)
110	TOPMED	ss4927505215	Apr 26, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5291707980	Oct 13, 2022 (156)
112	EVA	ss5407269627	Oct 13, 2022 (156)
113	HUGCELL_USP	ss5486360484	Oct 13, 2022 (156)
114	1000G_HIGH_COVERAGE	ss5589677879	Oct 13, 2022 (156)
115	SANFORD_IMAGENETICS	ss5624307741	Oct 13, 2022 (156)
116	SANFORD_IMAGENETICS	ss5653664008	Oct 13, 2022 (156)
117	EVA	ss5838309047	Oct 13, 2022 (156)
118	EVA	ss5847412926	Oct 13, 2022 (156)
119	EVA	ss5847678164	Oct 13, 2022 (156)
120	EVA	ss5905412289	Oct 13, 2022 (156)
121	EVA	ss5945047123	Oct 13, 2022 (156)
122	EVA	ss5979398776	Oct 13, 2022 (156)
123	1000Genomes	NC_000012.11 - 89328335	Oct 12, 2018 (152)
124	1000Genomes_30x	NC_000012.12 - 88934558	Oct 13, 2022 (156)
125	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 89328335	Oct 12, 2018 (152)
126	Chileans	NC_000012.11 - 89328335	Apr 27, 2020 (154)
127	Genome-wide autozygosity in Daghestan	NC_000012.10 - 87852466	Apr 27, 2020 (154)
128	Genetic variation in the Estonian population	NC_000012.11 - 89328335	Oct 12, 2018 (152)
129	The Danish reference pan genome	NC_000012.11 - 89328335	Apr 27, 2020 (154)
130	gnomAD - Genomes Submission ignored due to conflicting rows: Row 414954639 (NC_000012.12:88934557:T:A 1/139956) Row 414954640 (NC_000012.12:88934557:T:C 9973/139940) Row 414954641 (NC_000012.12:88934557:T:G 1/139956)	-	Apr 26, 2021 (155)
131	gnomAD - Genomes Submission ignored due to conflicting rows: Row 414954639 (NC_000012.12:88934557:T:A 1/139956) Row 414954640 (NC_000012.12:88934557:T:C 9973/139940) Row 414954641 (NC_000012.12:88934557:T:G 1/139956)	-	Apr 26, 2021 (155)
132	gnomAD - Genomes Submission ignored due to conflicting rows: Row 414954639 (NC_000012.12:88934557:T:A 1/139956) Row 414954640 (NC_000012.12:88934557:T:C 9973/139940) Row 414954641 (NC_000012.12:88934557:T:G 1/139956)	-	Apr 26, 2021 (155)
133	Genome of the Netherlands Release 5	NC_000012.11 - 89328335	Apr 27, 2020 (154)
134	HGDP-CEPH-db Supplement 1	NC_000012.10 - 87852466	Apr 27, 2020 (154)
135	HapMap	NC_000012.12 - 88934558	Apr 27, 2020 (154)
136	Northern Sweden	NC_000012.11 - 89328335	Jul 13, 2019 (153)
137	The PAGE Study	NC_000012.12 - 88934558	Jul 13, 2019 (153)
138	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 89328335	Apr 26, 2021 (155)
139	Qatari	NC_000012.11 - 89328335	Apr 27, 2020 (154)
140	SGDP_PRJ	NC_000012.11 - 89328335	Apr 27, 2020 (154)
141	Siberian	NC_000012.11 - 89328335	Apr 27, 2020 (154)
142	TopMed	NC_000012.12 - 88934558	Apr 26, 2021 (155)
143	UK 10K study - Twins	NC_000012.11 - 89328335	Oct 12, 2018 (152)
144	ALFA	NC_000012.12 - 88934558	Apr 26, 2021 (155)
145	ClinVar	RCV000013659.28	Oct 12, 2018 (152)

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)
rs60279556	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5355298477	NC_000012.12:88934557:T:A	NC_000012.12:88934557:T:A	(self)
ss3639001876, ss3639503489	NC_000012.9:87830802:T:C	NC_000012.12:88934557:T:C	(self)
111454, 136644, ss112301419, ss168612494, ss255282789, ss286603568, ss291302322, ss479825988, ss825385740, ss1397640634, ss1641899388, ss1713345845, ss2635039084, ss3642969707, ss3847458752	NC_000012.10:87852465:T:C	NC_000012.12:88934557:T:C	(self)
58827140, 32656135, 105333, 23129404, 3065371, 14572911, 12532539, 830710, 15201274, 30820681, 8192033, 32656135, ss236030445, ss479833175, ss480423001, ss484711461, ss491471734, ss536815419, ss779032145, ss780681627, ss782802490, ss783354954, ss783767942, ss832055502, ss832748193, ss834494878, ss989800643, ss1346039132, ss1576434243, ss1629118799, ss1672112832, ss1752084908, ss1752084909, ss1917877074, ss1933159344, ss1946345586, ss1959453963, ss2027332347, ss2094793951, ss2095038143, ss2155675679, ss2632988803, ss2632988804, ss2632988805, ss2913470787, ss2984986374, ss2985623703, ss3010105815, ss3021451931, ss3350181086, ss3625628225, ss3626932683, ss3626932684, ss3630996304, ss3633028573, ss3633729870, ss3634516146, ss3634516147, ss3635420449, ss3636201948, ss3637171439, ss3637977325, ss3640223479, ss3640223480, ss3644598583, ss3651833037, ss3651833038, ss3653756120, ss3677391156, ss3739247674, ss3744399173, ss3744816944, ss3744816945, ss3750782647, ss3772316202, ss3772316203, ss3833250465, ss3878803701, ss3985604783, ss5407269627, ss5624307741, ss5653664008, ss5838309047, ss5847412926, ss5847678164, ss5945047123, ss5979398776	NC_000012.11:89328334:T:C	NC_000012.12:88934557:T:C	(self)
RCV000013659.28, 77203814, 872434, 928243, 143050872, 5355298477, ss836188746, ss2191930477, ss3027475771, ss3649892197, ss3694165505, ss3725344252, ss3771706774, ss3816117587, ss4927505215, ss5291707980, ss5486360484, ss5589677879, ss5905412289	NC_000012.12:88934557:T:C	NC_000012.12:88934557:T:C	(self)
ss20923720	NT_019546.15:12810525:T:C	NC_000012.12:88934557:T:C	(self)
ss38879478, ss66670315, ss67041313, ss67366004, ss70416466, ss70585846, ss71128749, ss75600656, ss85275907, ss97246196, ss121604528, ss137364256, ss153284972, ss159235861, ss160301541, ss170235977, ss172251584, ss410902309	NT_029419.12:51471640:T:C	NC_000012.12:88934557:T:C	(self)
5355298477, ss2191930477	NC_000012.12:88934557:T:G	NC_000012.12:88934557:T:G	(self)

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

15 citations for rs12821256

PMID	Title	Author	Year	Journal
17952075	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Sulem P et al.	2007	Nature genetics
18483556	A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.	Han J et al.	2008	PLoS genetics
19863770	Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies.	Udayakumar D et al.	2009	Genome medicine
20042077	Genetic determinants of hair and eye colours in the Scottish and Danish populations.	Mengel-From J et al.	2009	BMC genetics
20546537	Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.	Gerstenblith MR et al.	2010	Pigment cell & melanoma research
20585627	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eriksson N et al.	2010	PLoS genetics
21197618	Model-based prediction of human hair color using DNA variants.	Branicki W et al.	2011	Human genetics
23110848	Human pigmentation genes under environmental selection.	Sturm RA et al.	2012	Genome biology
23927501	Why it is hard to find genes associated with social science traits: theoretical and empirical considerations.	Chabris CF et al.	2013	American journal of public health
24880339	A molecular basis for classic blond hair color in Europeans.	Guenther CA et al.	2014	Nature genetics
25473424	Enhancer variants: evaluating functions in common disease.	Corradin O et al.	2014	Genome medicine
30359302	PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.	Bodea CA et al.	2018	Genome biology
32614437	Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens.	Vicuña L et al.	2020	Genome biology and evolution
34721519	Comprehensive Insights Into Forensic Features and Genetic Background of Chinese Northwest Hui Group Using Six Distinct Categories of 231 Molecular Markers.	Chen C et al.	2021	Frontiers in genetics
35176104	Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.	Rauf S et al.	2022	PloS one

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs12821256