Name: rs1472212
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.

rs1472212

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:89359127 (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: C=0.281503 (74511/264690, TOPMED)
C=0.274441 (38273/139458, GnomAD)
C=0.03677 (1039/28258, 14KJPN) (+ 16 more)
C=0.27284 (5914/21676, ALFA)
C=0.03747 (628/16760, 8.3KJPN)
C=0.2526 (1265/5008, 1000G)
C=0.2132 (955/4480, Estonian)
C=0.1733 (668/3854, ALSPAC)
C=0.1775 (658/3708, TWINSUK)
C=0.0474 (139/2930, KOREAN)
C=0.1619 (182/1124, Daghestan)
C=0.182 (182/998, GoNL)
C=0.147 (88/600, NorthernSweden)
C=0.236 (78/330, HapMap)
C=0.204 (44/216, Qatari)
C=0.019 (4/214, Vietnamese)
T=0.408 (75/184, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
T=0.46 (11/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	21676	T=0.72716	C=0.27284
European	Sub	14370	T=0.79889	C=0.20111
African	Sub	5578	T=0.5294	C=0.4706
African Others	Sub	198	T=0.495	C=0.505
African American	Sub	5380	T=0.5307	C=0.4693
Asian	Sub	114	T=0.982	C=0.018
East Asian	Sub	88	T=0.99	C=0.01
Other Asian	Sub	26	T=0.96	C=0.04
Latin American 1	Sub	146	T=0.740	C=0.260
Latin American 2	Sub	610	T=0.775	C=0.225
South Asian	Sub	100	T=0.85	C=0.15
Other	Sub	758	T=0.727	C=0.273

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=0.718497	C=0.281503
gnomAD - Genomes	Global	Study-wide	139458	T=0.725559	C=0.274441
gnomAD - Genomes	European	Sub	75446	T=0.81212	C=0.18788
gnomAD - Genomes	African	Sub	41816	T=0.53434	C=0.46566
gnomAD - Genomes	American	Sub	13600	T=0.74956	C=0.25044
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.8290	C=0.1710
gnomAD - Genomes	East Asian	Sub	3132	T=0.9735	C=0.0265
gnomAD - Genomes	Other	Sub	2148	T=0.7346	C=0.2654
14KJPN	JAPANESE	Study-wide	28258	T=0.96323	C=0.03677
Allele Frequency Aggregator	Total	Global	21676	T=0.72716	C=0.27284
Allele Frequency Aggregator	European	Sub	14370	T=0.79889	C=0.20111
Allele Frequency Aggregator	African	Sub	5578	T=0.5294	C=0.4706
Allele Frequency Aggregator	Other	Sub	758	T=0.727	C=0.273
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.775	C=0.225
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.740	C=0.260
Allele Frequency Aggregator	Asian	Sub	114	T=0.982	C=0.018
Allele Frequency Aggregator	South Asian	Sub	100	T=0.85	C=0.15
8.3KJPN	JAPANESE	Study-wide	16760	T=0.96253	C=0.03747
1000Genomes	Global	Study-wide	5008	T=0.7474	C=0.2526
1000Genomes	African	Sub	1322	T=0.4887	C=0.5113
1000Genomes	East Asian	Sub	1008	T=0.9732	C=0.0268
1000Genomes	Europe	Sub	1006	T=0.8052	C=0.1948
1000Genomes	South Asian	Sub	978	T=0.813	C=0.187
1000Genomes	American	Sub	694	T=0.736	C=0.264
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7868	C=0.2132
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8267	C=0.1733
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8225	C=0.1775
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.9526	C=0.0474
Genome-wide autozygosity in Daghestan	Global	Study-wide	1124	T=0.8381	C=0.1619
Genome-wide autozygosity in Daghestan	Daghestan	Sub	622	T=0.846	C=0.154
Genome-wide autozygosity in Daghestan	Near_East	Sub	140	T=0.786	C=0.214
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.893	C=0.107
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.796	C=0.204
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	T=0.82	C=0.18
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.89	C=0.11
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.818	C=0.182
Northern Sweden	ACPOP	Study-wide	600	T=0.853	C=0.147
HapMap	Global	Study-wide	330	T=0.764	C=0.236
HapMap	African	Sub	120	T=0.517	C=0.483
HapMap	American	Sub	120	T=0.858	C=0.142
HapMap	Asian	Sub	90	T=0.97	C=0.03
Qatari	Global	Study-wide	216	T=0.796	C=0.204
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.981	C=0.019
SGDP_PRJ	Global	Study-wide	184	T=0.408	C=0.592
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
Siberian	Global	Study-wide	24	T=0.46	C=0.54

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.89359127T>C
GRCh37.p13 chr 12	NC_000012.11:g.89752904T>C

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.89359127=	NC_000012.12:g.89359127T>C
GRCh37.p13 chr 12	NC_000012.11:g.89752904=	NC_000012.11:g.89752904T>C

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#.

59 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2293200	Oct 10, 2002 (110)
2	SC_JCM	ss2520069	Nov 09, 2000 (92)
3	PERLEGEN	ss23431049	Sep 20, 2004 (123)
4	ABI	ss40124644	Mar 14, 2006 (126)
5	HGSV	ss79756587	Dec 14, 2007 (130)
6	HGSV	ss83386333	Dec 14, 2007 (130)
7	1000GENOMES	ss113899802	Jan 25, 2009 (130)
8	ILLUMINA-UK	ss119634066	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss168614356	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss170572219	Jul 04, 2010 (132)
11	COMPLETE_GENOMICS	ss175221529	Jul 04, 2010 (132)
12	BUSHMAN	ss198519465	Jul 04, 2010 (132)
13	1000GENOMES	ss225883900	Jul 14, 2010 (132)
14	1000GENOMES	ss236031333	Jul 15, 2010 (132)
15	1000GENOMES	ss242569941	Jul 15, 2010 (132)
16	PJP	ss291302681	May 09, 2011 (134)
17	TISHKOFF	ss563314967	Apr 25, 2013 (138)
18	SSMP	ss658890139	Apr 25, 2013 (138)
19	EVA-GONL	ss989803307	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1078658105	Aug 21, 2014 (142)
21	1000GENOMES	ss1346050116	Aug 21, 2014 (142)
22	HAMMER_LAB	ss1397640742	Sep 08, 2015 (146)
23	DDI	ss1427010041	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1576435239	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1629124799	Apr 01, 2015 (144)
26	EVA_DECODE	ss1641902119	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1672118832	Apr 01, 2015 (144)
28	HAMMER_LAB	ss1807355397	Sep 08, 2015 (146)
29	WEILL_CORNELL_DGM	ss1933161867	Feb 12, 2016 (147)
30	GENOMED	ss1967647939	Jul 19, 2016 (147)
31	JJLAB	ss2027333539	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2155676955	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2191954905	Dec 20, 2016 (150)
34	GRF	ss2700031592	Nov 08, 2017 (151)
35	GNOMAD	ss2913502777	Nov 08, 2017 (151)
36	BIOINF_KMB_FNS_UNIBA	ss3027476315	Nov 08, 2017 (151)
37	CSHL	ss3350182011	Nov 08, 2017 (151)
38	EGCUT_WGS	ss3677395578	Jul 13, 2019 (153)
39	ACPOP	ss3739249871	Jul 13, 2019 (153)
40	EVA	ss3750785792	Jul 13, 2019 (153)
41	PACBIO	ss3787294874	Jul 13, 2019 (153)
42	PACBIO	ss3792384765	Jul 13, 2019 (153)
43	PACBIO	ss3797267699	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3816120360	Jul 13, 2019 (153)
45	EVA	ss3833251422	Apr 27, 2020 (154)
46	EVA	ss3840198382	Apr 27, 2020 (154)
47	EVA	ss3845686196	Apr 27, 2020 (154)
48	SGDP_PRJ	ss3878808603	Apr 27, 2020 (154)
49	KRGDB	ss3927508593	Apr 27, 2020 (154)
50	TOPMED	ss4927609496	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5207495752	Apr 26, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5291717244	Oct 13, 2022 (156)
53	EVA	ss5407287611	Oct 13, 2022 (156)
54	HUGCELL_USP	ss5486368887	Oct 13, 2022 (156)
55	SANFORD_IMAGENETICS	ss5653668931	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5757625022	Oct 13, 2022 (156)
57	YY_MCH	ss5813518557	Oct 13, 2022 (156)
58	EVA	ss5905423492	Oct 13, 2022 (156)
59	EVA	ss5945052702	Oct 13, 2022 (156)
60	1000Genomes	NC_000012.11 - 89752904	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 89752904	Oct 12, 2018 (152)
62	Genome-wide autozygosity in Daghestan	NC_000012.10 - 88277035	Apr 27, 2020 (154)
63	Genetic variation in the Estonian population	NC_000012.11 - 89752904	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000012.11 - 89752904	Apr 27, 2020 (154)
65	gnomAD - Genomes	NC_000012.12 - 89359127	Apr 26, 2021 (155)
66	Genome of the Netherlands Release 5	NC_000012.11 - 89752904	Apr 27, 2020 (154)
67	HapMap	NC_000012.12 - 89359127	Apr 27, 2020 (154)
68	KOREAN population from KRGDB	NC_000012.11 - 89752904	Apr 27, 2020 (154)
69	Northern Sweden	NC_000012.11 - 89752904	Jul 13, 2019 (153)
70	Qatari	NC_000012.11 - 89752904	Apr 27, 2020 (154)
71	SGDP_PRJ	NC_000012.11 - 89752904	Apr 27, 2020 (154)
72	Siberian	NC_000012.11 - 89752904	Apr 27, 2020 (154)
73	8.3KJPN	NC_000012.11 - 89752904	Apr 26, 2021 (155)
74	14KJPN	NC_000012.12 - 89359127	Oct 13, 2022 (156)
75	TopMed	NC_000012.12 - 89359127	Apr 26, 2021 (155)
76	UK 10K study - Twins	NC_000012.11 - 89752904	Oct 12, 2018 (152)
77	A Vietnamese Genetic Variation Database	NC_000012.11 - 89752904	Jul 13, 2019 (153)
78	ALFA	NC_000012.12 - 89359127	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)
rs1689409	Jan 18, 2001 (92)
rs3911987	Dec 16, 2002 (110)
rs17016727	Oct 08, 2004 (123)
rs57089525	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss79756587, ss83386333	NC_000012.9:88255371:T:C	NC_000012.12:89359126:T:C	(self)
111560, ss113899802, ss119634066, ss168614356, ss170572219, ss175221529, ss198519465, ss291302681, ss1397640742, ss1641902119	NC_000012.10:88277034:T:C	NC_000012.12:89359126:T:C	(self)
58838485, 32662677, 23133826, 3066196, 14575514, 34685987, 12534736, 15203797, 30825583, 8193309, 65465059, 32662677, 7251243, ss225883900, ss236031333, ss242569941, ss563314967, ss658890139, ss989803307, ss1078658105, ss1346050116, ss1427010041, ss1576435239, ss1629124799, ss1672118832, ss1807355397, ss1933161867, ss1967647939, ss2027333539, ss2155676955, ss2700031592, ss2913502777, ss3350182011, ss3677395578, ss3739249871, ss3750785792, ss3787294874, ss3792384765, ss3797267699, ss3833251422, ss3840198382, ss3878808603, ss3927508593, ss5207495752, ss5407287611, ss5653668931, ss5945052702	NC_000012.11:89752903:T:C	NC_000012.12:89359126:T:C	(self)
415038983, 872960, 91462126, 143155153, 1486544278, ss2191954905, ss3027476315, ss3816120360, ss3845686196, ss4927609496, ss5291717244, ss5486368887, ss5757625022, ss5813518557, ss5905423492	NC_000012.12:89359126:T:C	NC_000012.12:89359126:T:C	(self)
ss2293200, ss2520069, ss23431049, ss40124644	NT_029419.12:51896209:T:C	NC_000012.12:89359126: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 rs1472212

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1472212