Name: rs12931472
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.

rs12931472

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:16187150 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.476507 (128939/270592, ALFA)
G=0.442544 (117137/264690, TOPMED)
G=0.424403 (105779/249242, GnomAD_exome) (+ 26 more)
G=0.448406 (62714/139860, GnomAD)
G=0.426116 (50326/118104, ExAC)
G=0.39471 (31058/78686, PAGE_STUDY)
G=0.21794 (6158/28256, 14KJPN)
G=0.21769 (3648/16758, 8.3KJPN)
G=0.46398 (6029/12994, GO-ESP)
G=0.3488 (2234/6404, 1000G_30x)
G=0.3395 (1700/5008, 1000G)
A=0.4973 (2228/4480, Estonian)
G=0.4992 (1924/3854, ALSPAC)
A=0.4951 (1836/3708, TWINSUK)
G=0.1720 (504/2930, KOREAN)
G=0.3090 (644/2084, HGDP_Stanford)
G=0.3633 (686/1888, HapMap)
A=0.458 (457/998, GoNL)
G=0.338 (306/906, PharmGKB)
G=0.152 (120/790, PRJEB37584)
G=0.122 (75/614, Vietnamese)
G=0.493 (296/600, NorthernSweden)
G=0.481 (257/534, MGP)
G=0.452 (133/294, FINRISK)
A=0.400 (108/270, SGDP_PRJ)
G=0.287 (62/216, Qatari)
A=0.45 (26/58, Ancient Sardinia)
A=0.45 (18/40, GENOME_DK)
A=0.37 (11/30, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ABCC6 : Missense 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	270808	A=0.523478	G=0.476522
European	Sub	228858	A=0.502137	G=0.497863
African	Sub	9394	A=0.6061	G=0.3939
African Others	Sub	326	A=0.586	G=0.414
African American	Sub	9068	A=0.6069	G=0.3931
Asian	Sub	6434	A=0.8331	G=0.1669
East Asian	Sub	4572	A=0.8255	G=0.1745
Other Asian	Sub	1862	A=0.8518	G=0.1482
Latin American 1	Sub	912	A=0.578	G=0.422
Latin American 2	Sub	1670	A=0.5180	G=0.4820
South Asian	Sub	5154	A=0.7344	G=0.2656
Other	Sub	18386	A=0.57723	G=0.42277

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	270592	A=0.523493	G=0.476507
Allele Frequency Aggregator	European	Sub	228678	A=0.502165	G=0.497835
Allele Frequency Aggregator	Other	Sub	18364	A=0.57727	G=0.42273
Allele Frequency Aggregator	African	Sub	9380	A=0.6057	G=0.3943
Allele Frequency Aggregator	Asian	Sub	6434	A=0.8331	G=0.1669
Allele Frequency Aggregator	South Asian	Sub	5154	A=0.7344	G=0.2656
Allele Frequency Aggregator	Latin American 2	Sub	1670	A=0.5180	G=0.4820
Allele Frequency Aggregator	Latin American 1	Sub	912	A=0.578	G=0.422
TopMed	Global	Study-wide	264690	A=0.557456	G=0.442544
gnomAD - Exomes	Global	Study-wide	249242	A=0.575597	G=0.424403
gnomAD - Exomes	European	Sub	133804	A=0.512929	G=0.487071
gnomAD - Exomes	Asian	Sub	48848	A=0.77524	G=0.22476
gnomAD - Exomes	American	Sub	34348	A=0.52408	G=0.47592
gnomAD - Exomes	African	Sub	16110	A=0.62222	G=0.37778
gnomAD - Exomes	Ashkenazi Jewish	Sub	10042	A=0.55985	G=0.44015
gnomAD - Exomes	Other	Sub	6090	A=0.5443	G=0.4557
gnomAD - Genomes	Global	Study-wide	139860	A=0.551594	G=0.448406
gnomAD - Genomes	European	Sub	75752	A=0.50446	G=0.49554
gnomAD - Genomes	African	Sub	41890	A=0.61602	G=0.38398
gnomAD - Genomes	American	Sub	13630	A=0.54263	G=0.45737
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	A=0.5612	G=0.4388
gnomAD - Genomes	East Asian	Sub	3122	A=0.8549	G=0.1451
gnomAD - Genomes	Other	Sub	2148	A=0.5587	G=0.4413
ExAC	Global	Study-wide	118104	A=0.573884	G=0.426116
ExAC	Europe	Sub	71376	A=0.51135	G=0.48865
ExAC	Asian	Sub	24492	A=0.76560	G=0.23440
ExAC	American	Sub	11266	A=0.51518	G=0.48482
ExAC	African	Sub	10092	A=0.61583	G=0.38417
ExAC	Other	Sub	878	A=0.581	G=0.419
The PAGE Study	Global	Study-wide	78686	A=0.60529	G=0.39471
The PAGE Study	AfricanAmerican	Sub	32510	A=0.61197	G=0.38803
The PAGE Study	Mexican	Sub	10806	A=0.51768	G=0.48232
The PAGE Study	Asian	Sub	8318	A=0.7951	G=0.2049
The PAGE Study	PuertoRican	Sub	7918	A=0.5173	G=0.4827
The PAGE Study	NativeHawaiian	Sub	4534	A=0.7309	G=0.2691
The PAGE Study	Cuban	Sub	4226	A=0.5260	G=0.4740
The PAGE Study	Dominican	Sub	3828	A=0.5666	G=0.4334
The PAGE Study	CentralAmerican	Sub	2448	A=0.5662	G=0.4338
The PAGE Study	SouthAmerican	Sub	1982	A=0.5242	G=0.4758
The PAGE Study	NativeAmerican	Sub	1260	A=0.5325	G=0.4675
The PAGE Study	SouthAsian	Sub	856	A=0.732	G=0.268
14KJPN	JAPANESE	Study-wide	28256	A=0.78206	G=0.21794
8.3KJPN	JAPANESE	Study-wide	16758	A=0.78231	G=0.21769
GO Exome Sequencing Project	Global	Study-wide	12994	A=0.53602	G=0.46398
GO Exome Sequencing Project	European American	Sub	8600	A=0.4951	G=0.5049
GO Exome Sequencing Project	African American	Sub	4394	A=0.6161	G=0.3839
1000Genomes_30x	Global	Study-wide	6404	A=0.6512	G=0.3488
1000Genomes_30x	African	Sub	1786	A=0.6557	G=0.3443
1000Genomes_30x	Europe	Sub	1266	A=0.4905	G=0.5095
1000Genomes_30x	South Asian	Sub	1202	A=0.7396	G=0.2604
1000Genomes_30x	East Asian	Sub	1170	A=0.8547	G=0.1453
1000Genomes_30x	American	Sub	980	A=0.499	G=0.501
1000Genomes	Global	Study-wide	5008	A=0.6605	G=0.3395
1000Genomes	African	Sub	1322	A=0.6672	G=0.3328
1000Genomes	East Asian	Sub	1008	A=0.8482	G=0.1518
1000Genomes	Europe	Sub	1006	A=0.5000	G=0.5000
1000Genomes	South Asian	Sub	978	A=0.734	G=0.266
1000Genomes	American	Sub	694	A=0.504	G=0.496
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4973	G=0.5027
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5008	G=0.4992
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4951	G=0.5049
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.8280	G=0.1720
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.6910	G=0.3090
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.874	G=0.126
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.763	G=0.237
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.591	G=0.409
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.553	G=0.447
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.657	G=0.343
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.468	G=0.532
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.96	G=0.04
HapMap	Global	Study-wide	1888	A=0.6367	G=0.3633
HapMap	American	Sub	770	A=0.632	G=0.368
HapMap	African	Sub	690	A=0.619	G=0.381
HapMap	Asian	Sub	254	A=0.776	G=0.224
HapMap	Europe	Sub	174	A=0.523	G=0.477
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.458	G=0.542
PharmGKB Aggregated	Global	Study-wide	906	A=0.662	G=0.338
PharmGKB Aggregated	PA152495725	Sub	550	A=0.631	G=0.369
PharmGKB Aggregated	PA149176293	Sub	356	A=0.711	G=0.289
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.848	G=0.152
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.848	G=0.152
A Vietnamese Genetic Variation Database	Global	Study-wide	614	A=0.878	G=0.122
Northern Sweden	ACPOP	Study-wide	600	A=0.507	G=0.493
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.519	G=0.481
FINRISK	Finnish from FINRISK project	Study-wide	294	A=0.548	G=0.452
SGDP_PRJ	Global	Study-wide	270	A=0.400	G=0.600
Qatari	Global	Study-wide	216	A=0.713	G=0.287
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	58	A=0.45	G=0.55
The Danish reference pan genome	Danish	Study-wide	40	A=0.45	G=0.55
Siberian	Global	Study-wide	30	A=0.37	G=0.63

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 16	NC_000016.10:g.16187150A>G
GRCh37.p13 chr 16	NC_000016.9:g.16281007A>G
ABCC6 RefSeqGene (LRG_1115)	NG_007558.3:g.41468T>C
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1845151G>A

Gene: ABCC6, ATP binding cassette subfamily C member 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC6 transcript variant 2	NM_001079528.4:c.	N/A	Genic Downstream Transcript Variant
ABCC6 transcript variant 3	NM_001351800.1:c.1499T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform 3	NP_001338729.1:p.Val500Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant 1	NM_001171.6:c.1841T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform 1	NP_001162.5:p.Val614Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant 4	NR_147784.1:n.1878T>C	N/A	Non Coding Transcript Variant
ABCC6 transcript variant X3	XM_011522480.1:c.1499T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X3	XP_011520782.1:p.Val500Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant X1	XM_011522479.3:c.1841T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X1	XP_011520781.1:p.Val614Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant X2	XM_017023212.2:c.1841T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X2	XP_016878701.1:p.Val614Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant X4	XM_011522481.4:c.1499T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X3	XP_011520783.1:p.Val500Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant X8	XM_017023214.2:c.1841T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X4	XP_016878703.1:p.Val614Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant X9	XM_047434069.1:c.1841T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X5	XP_047290025.1:p.Val614Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant X10	XM_011522482.4:c.1841T>C	V [GTC] > A [GCC]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X6	XP_011520784.1:p.Val614Ala	V (Val) > A (Ala)	Missense Variant
ABCC6 transcript variant X5	XR_932836.3:n.1901T>C	N/A	Non Coding Transcript Variant
ABCC6 transcript variant X6	XR_932838.4:n.1901T>C	N/A	Non Coding Transcript Variant
ABCC6 transcript variant X7	XR_932837.4:n.1901T>C	N/A	Non Coding Transcript 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.

Allele: G (allele ID: 426990 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000499100.5	Pseudoxanthoma elasticum	Benign
RCV001520636.5	not provided	Benign
RCV002253464.1	Pseudoxanthoma elasticum, forme fruste	Benign
RCV002253465.1	Arterial calcification, generalized, of infancy, 2	Benign

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	A=	G
GRCh38.p14 chr 16	NC_000016.10:g.16187150=	NC_000016.10:g.16187150A>G
GRCh37.p13 chr 16	NC_000016.9:g.16281007=	NC_000016.9:g.16281007A>G
ABCC6 RefSeqGene (LRG_1115)	NG_007558.3:g.41468=	NG_007558.3:g.41468T>C
ABCC6 transcript variant 1	NM_001171.6:c.1841=	NM_001171.6:c.1841T>C
ABCC6 transcript variant 1	NM_001171.5:c.1841=	NM_001171.5:c.1841T>C
ABCC6 transcript variant 3	NM_001351800.1:c.1499=	NM_001351800.1:c.1499T>C
ABCC6 transcript variant 4	NR_147784.1:n.1878=	NR_147784.1:n.1878T>C
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1845151G>A	NT_187607.1:g.1845151=
ABCC6 transcript variant X4	XM_011522481.4:c.1499=	XM_011522481.4:c.1499T>C
ABCC6 transcript variant X5	XM_011522481.3:c.1499=	XM_011522481.3:c.1499T>C
ABCC6 transcript variant X6	XM_011522481.2:c.1499=	XM_011522481.2:c.1499T>C
ABCC6 transcript variant X3	XM_011522481.1:c.1499=	XM_011522481.1:c.1499T>C
ABCC6 transcript variant X6	XR_932838.4:n.1901=	XR_932838.4:n.1901T>C
ABCC6 transcript variant X7	XR_932838.3:n.2022=	XR_932838.3:n.2022T>C
ABCC6 transcript variant X8	XR_932838.2:n.2022=	XR_932838.2:n.2022T>C
ABCC6 transcript variant X5	XR_932838.1:n.2077=	XR_932838.1:n.2077T>C
ABCC6 transcript variant X7	XR_932837.4:n.1901=	XR_932837.4:n.1901T>C
ABCC6 transcript variant X6	XR_932837.3:n.2022=	XR_932837.3:n.2022T>C
ABCC6 transcript variant X7	XR_932837.2:n.2021=	XR_932837.2:n.2021T>C
ABCC6 transcript variant X4	XR_932837.1:n.2077=	XR_932837.1:n.2077T>C
ABCC6 transcript variant X10	XM_011522482.4:c.1841=	XM_011522482.4:c.1841T>C
ABCC6 transcript variant X9	XM_011522482.3:c.1841=	XM_011522482.3:c.1841T>C
ABCC6 transcript variant X10	XM_011522482.2:c.1841=	XM_011522482.2:c.1841T>C
ABCC6 transcript variant X7	XM_011522482.1:c.1841=	XM_011522482.1:c.1841T>C
ABCC6 transcript variant X1	XM_011522479.3:c.1841=	XM_011522479.3:c.1841T>C
ABCC6 transcript variant X1	XM_011522479.2:c.1841=	XM_011522479.2:c.1841T>C
ABCC6 transcript variant X6	XM_011522479.1:c.1841=	XM_011522479.1:c.1841T>C
ABCC6 transcript variant X5	XR_932836.3:n.1901=	XR_932836.3:n.1901T>C
ABCC6 transcript variant X3	XR_932836.2:n.2022=	XR_932836.2:n.2022T>C
ABCC6 transcript variant X1	XR_932836.1:n.2076=	XR_932836.1:n.2076T>C
ABCC6 transcript variant X2	XM_017023212.2:c.1841=	XM_017023212.2:c.1841T>C
ABCC6 transcript variant X2	XM_017023212.1:c.1841=	XM_017023212.1:c.1841T>C
ABCC6 transcript variant X8	XM_017023214.2:c.1841=	XM_017023214.2:c.1841T>C
ABCC6 transcript variant X8	XM_017023214.1:c.1841=	XM_017023214.1:c.1841T>C
ABCC6 transcript variant X3	XM_011522480.1:c.1499=	XM_011522480.1:c.1499T>C
ABCC6 transcript variant X9	XM_047434069.1:c.1841=	XM_047434069.1:c.1841T>C
ATP-binding cassette sub-family C member 6 isoform 1	NP_001162.5:p.Val614=	NP_001162.5:p.Val614Ala
ATP-binding cassette sub-family C member 6 isoform 3	NP_001338729.1:p.Val500=	NP_001338729.1:p.Val500Ala
ATP-binding cassette sub-family C member 6 isoform X3	XP_011520783.1:p.Val500=	XP_011520783.1:p.Val500Ala
ATP-binding cassette sub-family C member 6 isoform X6	XP_011520784.1:p.Val614=	XP_011520784.1:p.Val614Ala
ATP-binding cassette sub-family C member 6 isoform X1	XP_011520781.1:p.Val614=	XP_011520781.1:p.Val614Ala
ATP-binding cassette sub-family C member 6 isoform X2	XP_016878701.1:p.Val614=	XP_016878701.1:p.Val614Ala
ATP-binding cassette sub-family C member 6 isoform X4	XP_016878703.1:p.Val614=	XP_016878703.1:p.Val614Ala
ATP-binding cassette sub-family C member 6 isoform X3	XP_011520782.1:p.Val500=	XP_011520782.1:p.Val500Ala
ATP-binding cassette sub-family C member 6 isoform X5	XP_047290025.1:p.Val614=	XP_047290025.1:p.Val614Ala
multidrug resistance-associated protein 6 isoform 1	NP_001162.4:p.Val614=	NP_001162.4:p.Val614Ala

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#.

170 SubSNP, 29 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss21355298	Apr 05, 2004 (121)
2	PERLEGEN	ss23543392	Sep 20, 2004 (123)
3	ABI	ss40696483	Mar 14, 2006 (126)
4	ILLUMINA	ss65730684	Oct 14, 2006 (127)
5	ILLUMINA	ss66605758	Nov 30, 2006 (127)
6	ILLUMINA	ss67047475	Nov 30, 2006 (127)
7	ILLUMINA	ss67373086	Nov 30, 2006 (127)
8	PERLEGEN	ss69340480	May 17, 2007 (127)
9	ILLUMINA	ss70417509	May 17, 2007 (127)
10	ILLUMINA	ss70589009	May 23, 2008 (130)
11	ILLUMINA	ss71132369	May 17, 2007 (127)
12	AFFY	ss74818340	Aug 16, 2007 (128)
13	ILLUMINA	ss75470390	Dec 06, 2007 (129)
14	PHARMGKB_AB_DME	ss84161799	Dec 14, 2007 (130)
15	PHARMGKB_PMT	ss84171157	Dec 14, 2007 (130)
16	KRIBB_YJKIM	ss85285533	Dec 14, 2007 (130)
17	CORNELL	ss86242351	Mar 23, 2008 (129)
18	BCMHGSC_JDW	ss90334540	Mar 24, 2008 (129)
19	HUMANGENOME_JCVI	ss96628356	Feb 03, 2009 (130)
20	SNP500CANCER	ss105440081	Feb 03, 2009 (130)
21	ABCC6-LOVD	ss107794887	Feb 03, 2009 (130)
22	1000GENOMES	ss109235193	Jan 23, 2009 (130)
23	1000GENOMES	ss114911714	Jan 25, 2009 (130)
24	ILLUMINA-UK	ss118208446	Feb 14, 2009 (130)
25	ILLUMINA	ss121610416	Dec 01, 2009 (131)
26	ENSEMBL	ss136614326	Dec 01, 2009 (131)
27	ENSEMBL	ss136786375	Dec 01, 2009 (131)
28	ILLUMINA	ss153297087	Dec 01, 2009 (131)
29	GMI	ss157153447	Dec 01, 2009 (131)
30	ILLUMINA	ss159239349	Dec 01, 2009 (131)
31	SEATTLESEQ	ss159732351	Dec 01, 2009 (131)
32	COMPLETE_GENOMICS	ss167948210	Jul 04, 2010 (132)
33	COMPLETE_GENOMICS	ss169309988	Jul 04, 2010 (132)
34	ILLUMINA	ss170257276	Jul 04, 2010 (132)
35	COMPLETE_GENOMICS	ss171043934	Jul 04, 2010 (132)
36	ILLUMINA	ss172281178	Jul 04, 2010 (132)
37	BUSHMAN	ss201504354	Jul 04, 2010 (132)
38	1000GENOMES	ss217325512	Jul 14, 2010 (132)
39	1000GENOMES	ss217404327	Jul 14, 2010 (132)
40	1000GENOMES	ss217405842	Jul 14, 2010 (132)
41	1000GENOMES	ss217413171	Jul 14, 2010 (132)
42	1000GENOMES	ss217424485	Jul 14, 2010 (132)
43	1000GENOMES	ss217428937	Jul 14, 2010 (132)
44	1000GENOMES	ss217430945	Jul 14, 2010 (132)
45	1000GENOMES	ss227171083	Jul 14, 2010 (132)
46	1000GENOMES	ss236973411	Jul 15, 2010 (132)
47	1000GENOMES	ss243323929	Jul 15, 2010 (132)
48	BL	ss255552567	May 09, 2011 (134)
49	GMI	ss282457658	May 04, 2012 (137)
50	GMI	ss287043651	Apr 25, 2013 (138)
51	PJP	ss291928946	May 09, 2011 (134)
52	NHLBI-ESP	ss342421936	May 09, 2011 (134)
53	ILLUMINA	ss410902816	Sep 17, 2011 (135)
54	ILLUMINA	ss483484957	May 04, 2012 (137)
55	ILLUMINA	ss483911692	May 04, 2012 (137)
56	1000GENOMES	ss491098382	May 04, 2012 (137)
57	EXOME_CHIP	ss491505067	May 04, 2012 (137)
58	CLINSEQ_SNP	ss491714182	May 04, 2012 (137)
59	ILLUMINA	ss536105810	Sep 08, 2015 (146)
60	TISHKOFF	ss564816016	Apr 25, 2013 (138)
61	SSMP	ss660562163	Apr 25, 2013 (138)
62	ILLUMINA	ss780454875	Aug 21, 2014 (142)
63	ILLUMINA	ss780716325	Sep 08, 2015 (146)
64	ILLUMINA	ss782399470	Aug 21, 2014 (142)
65	ILLUMINA	ss783391681	Sep 08, 2015 (146)
66	ILLUMINA	ss825386783	Jul 19, 2016 (147)
67	ILLUMINA	ss832751670	Jul 13, 2019 (153)
68	ILLUMINA	ss835944863	Aug 21, 2014 (142)
69	JMKIDD_LAB	ss974494199	Aug 21, 2014 (142)
70	EVA-GONL	ss992338313	Aug 21, 2014 (142)
71	JMKIDD_LAB	ss1067559598	Aug 21, 2014 (142)
72	JMKIDD_LAB	ss1080526170	Aug 21, 2014 (142)
73	1000GENOMES	ss1355598876	Aug 21, 2014 (142)
74	DDI	ss1427794674	Apr 01, 2015 (144)
75	EVA_GENOME_DK	ss1577858127	Apr 01, 2015 (144)
76	EVA_FINRISK	ss1584098649	Apr 01, 2015 (144)
77	EVA_UK10K_ALSPAC	ss1634122140	Apr 01, 2015 (144)
78	EVA_UK10K_TWINSUK	ss1677116173	Apr 01, 2015 (144)
79	EVA_EXAC	ss1692178421	Apr 01, 2015 (144)
80	EVA_DECODE	ss1696373496	Apr 01, 2015 (144)
81	EVA_MGP	ss1711420768	Apr 01, 2015 (144)
82	EVA_SVP	ss1713529754	Apr 01, 2015 (144)
83	ILLUMINA	ss1752184062	Sep 08, 2015 (146)
84	HAMMER_LAB	ss1808446599	Sep 08, 2015 (146)
85	ILLUMINA	ss1917905027	Feb 12, 2016 (147)
86	WEILL_CORNELL_DGM	ss1935755851	Feb 12, 2016 (147)
87	ILLUMINA	ss1946410345	Feb 12, 2016 (147)
88	ILLUMINA	ss1959663830	Feb 12, 2016 (147)
89	GENOMED	ss1968232407	Jul 19, 2016 (147)
90	JJLAB	ss2028664927	Sep 14, 2016 (149)
91	USC_VALOUEV	ss2157076463	Dec 20, 2016 (150)
92	HUMAN_LONGEVITY	ss2211039147	Dec 20, 2016 (150)
93	ILLUMINA	ss2633301243	Nov 08, 2017 (151)
94	ILLUMINA	ss2633301244	Nov 08, 2017 (151)
95	GRF	ss2701575443	Nov 08, 2017 (151)
96	GNOMAD	ss2741787139	Nov 08, 2017 (151)
97	GNOMAD	ss2749481113	Nov 08, 2017 (151)
98	AFFY	ss2985061923	Nov 08, 2017 (151)
99	SWEGEN	ss3014157175	Nov 08, 2017 (151)
100	ILLUMINA	ss3021689313	Nov 08, 2017 (151)
101	EVA_SAMSUNG_MC	ss3023069667	Nov 08, 2017 (151)
102	BIOINF_KMB_FNS_UNIBA	ss3028158057	Nov 08, 2017 (151)
103	CSHL	ss3351363072	Nov 08, 2017 (151)
104	ILLUMINA	ss3627490147	Oct 12, 2018 (152)
105	ILLUMINA	ss3627490148	Oct 12, 2018 (152)
106	ILLUMINA	ss3631288883	Oct 12, 2018 (152)
107	ILLUMINA	ss3634634840	Oct 12, 2018 (152)
108	ILLUMINA	ss3638116647	Oct 12, 2018 (152)
109	ILLUMINA	ss3639070618	Oct 12, 2018 (152)
110	ILLUMINA	ss3639541207	Oct 12, 2018 (152)
111	ILLUMINA	ss3640342160	Oct 12, 2018 (152)
112	ILLUMINA	ss3641947656	Oct 12, 2018 (152)
113	ILLUMINA	ss3643098320	Oct 12, 2018 (152)
114	ILLUMINA	ss3644663434	Oct 12, 2018 (152)
115	OMUKHERJEE_ADBS	ss3646487407	Oct 12, 2018 (152)
116	URBANLAB	ss3650476088	Oct 12, 2018 (152)
117	ILLUMINA	ss3652095774	Oct 12, 2018 (152)
118	ILLUMINA	ss3653834272	Oct 12, 2018 (152)
119	EGCUT_WGS	ss3681270294	Jul 13, 2019 (153)
120	EVA_DECODE	ss3698945852	Jul 13, 2019 (153)
121	ILLUMINA	ss3725548583	Jul 13, 2019 (153)
122	ACPOP	ss3741382507	Jul 13, 2019 (153)
123	ILLUMINA	ss3744429235	Jul 13, 2019 (153)
124	ILLUMINA	ss3744935290	Jul 13, 2019 (153)
125	EVA	ss3753751750	Jul 13, 2019 (153)
126	PAGE_CC	ss3771869426	Jul 13, 2019 (153)
127	ILLUMINA	ss3772433645	Jul 13, 2019 (153)
128	KHV_HUMAN_GENOMES	ss3819045557	Jul 13, 2019 (153)
129	EVA	ss3824992091	Apr 27, 2020 (154)
130	EVA	ss3825530476	Apr 27, 2020 (154)
131	EVA	ss3825545345	Apr 27, 2020 (154)
132	EVA	ss3825874939	Apr 27, 2020 (154)
133	EVA	ss3834501624	Apr 27, 2020 (154)
134	EVA	ss3840856335	Apr 27, 2020 (154)
135	EVA	ss3846347714	Apr 27, 2020 (154)
136	HGDP	ss3847541203	Apr 27, 2020 (154)
137	SGDP_PRJ	ss3884058428	Apr 27, 2020 (154)
138	KRGDB	ss3933370162	Apr 27, 2020 (154)
139	FSA-LAB	ss3984088974	Apr 27, 2021 (155)
140	EVA	ss3984710604	Apr 27, 2021 (155)
141	EVA	ss3985748939	Apr 27, 2021 (155)
142	EVA	ss3986070040	Apr 27, 2021 (155)
143	EVA	ss3986677888	Apr 27, 2021 (155)
144	EVA	ss4017728804	Apr 27, 2021 (155)
145	VINODS	ss4032512775	Apr 27, 2021 (155)
146	TOPMED	ss5009592729	Apr 27, 2021 (155)
147	TOMMO_GENOMICS	ss5218677827	Apr 27, 2021 (155)
148	EVA	ss5236931307	Apr 27, 2021 (155)
149	EVA	ss5237233399	Apr 27, 2021 (155)
150	EVA	ss5237665946	Oct 17, 2022 (156)
151	1000G_HIGH_COVERAGE	ss5300328282	Oct 17, 2022 (156)
152	TRAN_CS_UWATERLOO	ss5314443603	Oct 17, 2022 (156)
153	EVA	ss5315828340	Oct 17, 2022 (156)
154	EVA	ss5422656307	Oct 17, 2022 (156)
155	HUGCELL_USP	ss5493827576	Oct 17, 2022 (156)
156	EVA	ss5511578715	Oct 17, 2022 (156)
157	1000G_HIGH_COVERAGE	ss5602647375	Oct 17, 2022 (156)
158	EVA	ss5624060312	Oct 17, 2022 (156)
159	SANFORD_IMAGENETICS	ss5658573318	Oct 17, 2022 (156)
160	TOMMO_GENOMICS	ss5773233481	Oct 17, 2022 (156)
161	EVA	ss5800069178	Oct 17, 2022 (156)
162	EVA	ss5800199404	Oct 17, 2022 (156)
163	YY_MCH	ss5815804891	Oct 17, 2022 (156)
164	EVA	ss5846177834	Oct 17, 2022 (156)
165	EVA	ss5847765382	Oct 17, 2022 (156)
166	EVA	ss5848419938	Oct 17, 2022 (156)
167	EVA	ss5851513727	Oct 17, 2022 (156)
168	EVA	ss5898493905	Oct 17, 2022 (156)
169	EVA	ss5950003062	Oct 17, 2022 (156)
170	EVA	ss5980909522	Oct 17, 2022 (156)
171	1000Genomes	NC_000016.9 - 16281007	Oct 12, 2018 (152)
172	1000Genomes_30x	NC_000016.10 - 16187150	Oct 17, 2022 (156)
173	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 16281007	Oct 12, 2018 (152)
174	Genetic variation in the Estonian population	NC_000016.9 - 16281007	Oct 12, 2018 (152)
175	ExAC	NC_000016.9 - 16281007	Oct 12, 2018 (152)
176	FINRISK	NC_000016.9 - 16281007	Apr 27, 2020 (154)
177	The Danish reference pan genome	NC_000016.9 - 16281007	Apr 27, 2020 (154)
178	gnomAD - Genomes	NC_000016.10 - 16187150	Apr 27, 2021 (155)
179	gnomAD - Exomes	NC_000016.9 - 16281007	Jul 13, 2019 (153)
180	GO Exome Sequencing Project	NC_000016.9 - 16281007	Oct 12, 2018 (152)
181	Genome of the Netherlands Release 5	NC_000016.9 - 16281007	Apr 27, 2020 (154)
182	HGDP-CEPH-db Supplement 1	NC_000016.8 - 16188508	Apr 27, 2020 (154)
183	HapMap	NC_000016.10 - 16187150	Apr 27, 2020 (154)
184	KOREAN population from KRGDB	NC_000016.9 - 16281007	Apr 27, 2020 (154)
185	Medical Genome Project healthy controls from Spanish population	NC_000016.9 - 16281007	Apr 27, 2020 (154)
186	Northern Sweden	NC_000016.9 - 16281007	Jul 13, 2019 (153)
187	The PAGE Study	NC_000016.10 - 16187150	Jul 13, 2019 (153)
188	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 16281007	Apr 27, 2021 (155)
189	CNV burdens in cranial meningiomas	NC_000016.9 - 16281007	Apr 27, 2021 (155)
190	PharmGKB Aggregated	NC_000016.10 - 16187150	Apr 27, 2020 (154)
191	Qatari	NC_000016.9 - 16281007	Apr 27, 2020 (154)
192	SGDP_PRJ	NC_000016.9 - 16281007	Apr 27, 2020 (154)
193	Siberian	NC_000016.9 - 16281007	Apr 27, 2020 (154)
194	8.3KJPN	NC_000016.9 - 16281007	Apr 27, 2021 (155)
195	14KJPN	NC_000016.10 - 16187150	Oct 17, 2022 (156)
196	TopMed	NC_000016.10 - 16187150	Apr 27, 2021 (155)
197	UK 10K study - Twins	NC_000016.9 - 16281007	Oct 12, 2018 (152)
198	A Vietnamese Genetic Variation Database	NC_000016.9 - 16281007	Jul 13, 2019 (153)
199	ALFA	NC_000016.10 - 16187150	Apr 27, 2021 (155)
200	ClinVar	RCV000499100.5	Oct 17, 2022 (156)
201	ClinVar	RCV001520636.5	Oct 17, 2022 (156)
202	ClinVar	RCV002253464.1	Oct 17, 2022 (156)
203	ClinVar	RCV002253465.1	Oct 17, 2022 (156)

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)
rs52812178	Sep 21, 2007 (128)
rs56825606	May 23, 2008 (130)
rs117104539	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
219095, ss90334540, ss109235193, ss114911714, ss118208446, ss167948210, ss169309988, ss171043934, ss201504354, ss217325512, ss217404327, ss217405842, ss217413171, ss217424485, ss217428937, ss217430945, ss255552567, ss282457658, ss287043651, ss291928946, ss483484957, ss491714182, ss825386783, ss1696373496, ss1713529754, ss3639070618, ss3639541207, ss3643098320, ss3847541203	NC_000016.8:16188507:A:G	NC_000016.10:16187149:A:G	(self)
68740610, 38167102, 27008542, 2576949, 95110, 4072825, 11065423, 1449278, 17025344, 40547556, 536528, 14667372, 974866, 260137, 17797773, 36075408, 9592817, 76647134, 38167102, 8478654, ss227171083, ss236973411, ss243323929, ss342421936, ss483911692, ss491098382, ss491505067, ss536105810, ss564816016, ss660562163, ss780454875, ss780716325, ss782399470, ss783391681, ss832751670, ss835944863, ss974494199, ss992338313, ss1067559598, ss1080526170, ss1355598876, ss1427794674, ss1577858127, ss1584098649, ss1634122140, ss1677116173, ss1692178421, ss1711420768, ss1752184062, ss1808446599, ss1917905027, ss1935755851, ss1946410345, ss1959663830, ss1968232407, ss2028664927, ss2157076463, ss2633301243, ss2633301244, ss2701575443, ss2741787139, ss2749481113, ss2985061923, ss3014157175, ss3021689313, ss3023069667, ss3351363072, ss3627490147, ss3627490148, ss3631288883, ss3634634840, ss3638116647, ss3640342160, ss3641947656, ss3644663434, ss3646487407, ss3652095774, ss3653834272, ss3681270294, ss3741382507, ss3744429235, ss3744935290, ss3753751750, ss3772433645, ss3824992091, ss3825530476, ss3825545345, ss3825874939, ss3834501624, ss3840856335, ss3884058428, ss3933370162, ss3984088974, ss3984710604, ss3985748939, ss3986070040, ss3986677888, ss4017728804, ss5218677827, ss5315828340, ss5422656307, ss5511578715, ss5624060312, ss5658573318, ss5800069178, ss5800199404, ss5846177834, ss5847765382, ss5848419938, ss5950003062, ss5980909522	NC_000016.9:16281006:A:G	NC_000016.10:16187149:A:G	(self)
RCV000499100.5, RCV001520636.5, RCV002253464.1, RCV002253465.1, 90173310, 484397629, 1359385, 1090895, 4070, 107070585, 225138390, 9018005948, ss107794887, ss2211039147, ss3028158057, ss3650476088, ss3698945852, ss3725548583, ss3771869426, ss3819045557, ss3846347714, ss5009592729, ss5236931307, ss5237233399, ss5237665946, ss5300328282, ss5314443603, ss5493827576, ss5602647375, ss5773233481, ss5815804891, ss5851513727, ss5898493905	NC_000016.10:16187149:A:G	NC_000016.10:16187149:A:G	(self)
ss21355298	NT_010393.14:7593140:A:G	NC_000016.10:16187149:A:G	(self)
ss23543392, ss40696483, ss65730684, ss66605758, ss67047475, ss67373086, ss69340480, ss70417509, ss70589009, ss71132369, ss74818340, ss75470390, ss84161799, ss84171157, ss85285533, ss86242351, ss96628356, ss105440081, ss121610416, ss136614326, ss136786375, ss153297087, ss157153447, ss159239349, ss159732351, ss170257276, ss172281178, ss410902816	NT_010393.16:16221006:A:G	NC_000016.10:16187149:A:G	(self)
ss4032512775	NT_187607.1:1845150:G:G	NC_000016.10:16187149:A:G	(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 rs12931472

PMID	Title	Author	Year	Journal
10835642	Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.	Le Saux O et al.	2000	Nature genetics

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

rs12931472