Name: rs8002908
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.

rs8002908

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:95287105 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.433700 (114796/264690, TOPMED)
G=0.444312 (62105/139778, GnomAD)
G=0.25681 (7257/28258, 14KJPN) (+ 15 more)
G=0.48145 (8722/18116, ALFA)
G=0.25638 (4297/16760, 8.3KJPN)
G=0.3848 (2464/6404, 1000G_30x)
G=0.3894 (1950/5008, 1000G)
C=0.4804 (2152/4480, Estonian)
C=0.4652 (1793/3854, ALSPAC)
C=0.4428 (1642/3708, TWINSUK)
G=0.2911 (853/2930, KOREAN)
G=0.2806 (514/1832, Korea1K)
C=0.437 (436/998, GoNL)
C=0.447 (268/600, NorthernSweden)
C=0.355 (127/358, SGDP_PRJ)
G=0.389 (84/216, Qatari)
C=0.41 (19/46, Siberian)
C=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ABCC4 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18116	C=0.51855	G=0.48145, T=0.00000
European	Sub	13744	C=0.46231	G=0.53769, T=0.00000
African	Sub	2716	C=0.7957	G=0.2043, T=0.0000
African Others	Sub	106	C=0.821	G=0.179, T=0.000
African American	Sub	2610	C=0.7946	G=0.2054, T=0.0000
Asian	Sub	112	C=0.670	G=0.330, T=0.000
East Asian	Sub	86	C=0.65	G=0.35, T=0.00
Other Asian	Sub	26	C=0.73	G=0.27, T=0.00
Latin American 1	Sub	146	C=0.548	G=0.452, T=0.000
Latin American 2	Sub	610	C=0.505	G=0.495, T=0.000
South Asian	Sub	98	C=0.38	G=0.62, T=0.00
Other	Sub	690	C=0.549	G=0.451, T=0.000

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	C=0.566300	G=0.433700
gnomAD - Genomes	Global	Study-wide	139778	C=0.555688	G=0.444312
gnomAD - Genomes	European	Sub	75726	C=0.44728	G=0.55272
gnomAD - Genomes	African	Sub	41862	C=0.76119	G=0.23881
gnomAD - Genomes	American	Sub	13598	C=0.51478	G=0.48522
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.5313	G=0.4687
gnomAD - Genomes	East Asian	Sub	3120	C=0.6372	G=0.3628
gnomAD - Genomes	Other	Sub	2148	C=0.5507	G=0.4493
14KJPN	JAPANESE	Study-wide	28258	C=0.74319	G=0.25681
Allele Frequency Aggregator	Total	Global	18116	C=0.51855	G=0.48145, T=0.00000
Allele Frequency Aggregator	European	Sub	13744	C=0.46231	G=0.53769, T=0.00000
Allele Frequency Aggregator	African	Sub	2716	C=0.7957	G=0.2043, T=0.0000
Allele Frequency Aggregator	Other	Sub	690	C=0.549	G=0.451, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.505	G=0.495, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.548	G=0.452, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=0.670	G=0.330, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.38	G=0.62, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	C=0.74362	G=0.25638
1000Genomes_30x	Global	Study-wide	6404	C=0.6152	G=0.3848
1000Genomes_30x	African	Sub	1786	C=0.8253	G=0.1747
1000Genomes_30x	Europe	Sub	1266	C=0.4542	G=0.5458
1000Genomes_30x	South Asian	Sub	1202	C=0.5458	G=0.4542
1000Genomes_30x	East Asian	Sub	1170	C=0.6282	G=0.3718
1000Genomes_30x	American	Sub	980	C=0.510	G=0.490
1000Genomes	Global	Study-wide	5008	C=0.6106	G=0.3894
1000Genomes	African	Sub	1322	C=0.8298	G=0.1702
1000Genomes	East Asian	Sub	1008	C=0.6310	G=0.3690
1000Genomes	Europe	Sub	1006	C=0.4513	G=0.5487
1000Genomes	South Asian	Sub	978	C=0.536	G=0.464
1000Genomes	American	Sub	694	C=0.500	G=0.500
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4804	G=0.5196
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4652	G=0.5348
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4428	G=0.5572
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7089	A=0.0000, G=0.2911
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7194	G=0.2806
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.437	G=0.563
Northern Sweden	ACPOP	Study-wide	600	C=0.447	G=0.553
SGDP_PRJ	Global	Study-wide	358	C=0.355	G=0.645
Qatari	Global	Study-wide	216	C=0.611	G=0.389
Siberian	Global	Study-wide	46	C=0.41	G=0.59
The Danish reference pan genome	Danish	Study-wide	40	C=0.40	G=0.60

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 13	NC_000013.11:g.95287105C>A
GRCh38.p14 chr 13	NC_000013.11:g.95287105C>G
GRCh38.p14 chr 13	NC_000013.11:g.95287105C>T
GRCh37.p13 chr 13	NC_000013.10:g.95939359C>A
GRCh37.p13 chr 13	NC_000013.10:g.95939359C>G
GRCh37.p13 chr 13	NC_000013.10:g.95939359C>T
PEL blood group RefSeqGene (LRG_1183)	NG_050651.2:g.19342G>T
PEL blood group RefSeqGene (LRG_1183)	NG_050651.2:g.19342G>C
PEL blood group RefSeqGene (LRG_1183)	NG_050651.2:g.19342G>A

Gene: ABCC4, ATP binding cassette subfamily C member 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC4 transcript variant 2	NM_001105515.3:c.74+14136… NM_001105515.3:c.74+14136G>T	N/A	Intron Variant
ABCC4 transcript variant 3	NM_001301829.2:c.74+14136… NM_001301829.2:c.74+14136G>T	N/A	Intron Variant
ABCC4 transcript variant 4	NM_001301830.2:c.74+14136… NM_001301830.2:c.74+14136G>T	N/A	Intron Variant
ABCC4 transcript variant 1	NM_005845.5:c.74+14136G>T	N/A	Intron Variant
ABCC4 transcript variant X3	XM_017020320.3:c.74+14136… XM_017020320.3:c.74+14136G>T	N/A	Intron Variant
ABCC4 transcript variant X1	XM_047430034.1:c.	N/A	Genic Upstream Transcript Variant
ABCC4 transcript variant X2	XM_047430035.1:c.	N/A	Genic Upstream 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.

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=	A	G	T
GRCh38.p14 chr 13	NC_000013.11:g.95287105=	NC_000013.11:g.95287105C>A	NC_000013.11:g.95287105C>G	NC_000013.11:g.95287105C>T
GRCh37.p13 chr 13	NC_000013.10:g.95939359=	NC_000013.10:g.95939359C>A	NC_000013.10:g.95939359C>G	NC_000013.10:g.95939359C>T
PEL blood group RefSeqGene (LRG_1183)	NG_050651.2:g.19342=	NG_050651.2:g.19342G>T	NG_050651.2:g.19342G>C	NG_050651.2:g.19342G>A
ABCC4 transcript variant 2	NM_001105515.1:c.74+14136=	NM_001105515.1:c.74+14136G>T	NM_001105515.1:c.74+14136G>C	NM_001105515.1:c.74+14136G>A
ABCC4 transcript variant 2	NM_001105515.3:c.74+14136=	NM_001105515.3:c.74+14136G>T	NM_001105515.3:c.74+14136G>C	NM_001105515.3:c.74+14136G>A
ABCC4 transcript variant 3	NM_001301829.2:c.74+14136=	NM_001301829.2:c.74+14136G>T	NM_001301829.2:c.74+14136G>C	NM_001301829.2:c.74+14136G>A
ABCC4 transcript variant 4	NM_001301830.2:c.74+14136=	NM_001301830.2:c.74+14136G>T	NM_001301830.2:c.74+14136G>C	NM_001301830.2:c.74+14136G>A
ABCC4 transcript variant 1	NM_005845.3:c.74+14136=	NM_005845.3:c.74+14136G>T	NM_005845.3:c.74+14136G>C	NM_005845.3:c.74+14136G>A
ABCC4 transcript variant 1	NM_005845.5:c.74+14136=	NM_005845.5:c.74+14136G>T	NM_005845.5:c.74+14136G>C	NM_005845.5:c.74+14136G>A
ABCC4 transcript variant X2	XM_005254026.1:c.74+14136=	XM_005254026.1:c.74+14136G>T	XM_005254026.1:c.74+14136G>C	XM_005254026.1:c.74+14136G>A
ABCC4 transcript variant X3	XM_005254027.1:c.74+14136=	XM_005254027.1:c.74+14136G>T	XM_005254027.1:c.74+14136G>C	XM_005254027.1:c.74+14136G>A
ABCC4 transcript variant X4	XM_005254028.1:c.74+14136=	XM_005254028.1:c.74+14136G>T	XM_005254028.1:c.74+14136G>C	XM_005254028.1:c.74+14136G>A
ABCC4 transcript variant X3	XM_017020320.3:c.74+14136=	XM_017020320.3:c.74+14136G>T	XM_017020320.3:c.74+14136G>C	XM_017020320.3:c.74+14136G>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#.

66 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12269829	Jul 11, 2003 (116)
2	SC_SNP	ss13197181	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss16618198	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss17495017	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss19968830	Feb 27, 2004 (120)
6	SSAHASNP	ss21054283	Apr 05, 2004 (121)
7	HGSV	ss83491569	Dec 16, 2007 (130)
8	BCMHGSC_JDW	ss89807633	Mar 24, 2008 (129)
9	ENSEMBL	ss133771331	Dec 01, 2009 (131)
10	ENSEMBL	ss143681162	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss168578653	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss170509296	Jul 04, 2010 (132)
13	BUSHMAN	ss199585323	Jul 04, 2010 (132)
14	BCM-HGSC-SUB	ss208699669	Jul 04, 2010 (132)
15	1000GENOMES	ss226358698	Jul 14, 2010 (132)
16	1000GENOMES	ss236387118	Jul 15, 2010 (132)
17	1000GENOMES	ss242852156	Jul 15, 2010 (132)
18	GMI	ss281842616	May 04, 2012 (137)
19	GMI	ss286767881	Apr 25, 2013 (138)
20	PJP	ss291512129	May 09, 2011 (134)
21	TISHKOFF	ss563853662	Apr 25, 2013 (138)
22	SSMP	ss659494819	Apr 25, 2013 (138)
23	EVA-GONL	ss990737427	Aug 21, 2014 (142)
24	JMKIDD_LAB	ss1079349145	Aug 21, 2014 (142)
25	1000GENOMES	ss1349478760	Aug 21, 2014 (142)
26	DDI	ss1427293602	Apr 01, 2015 (144)
27	EVA_GENOME_DK	ss1577000722	Apr 01, 2015 (144)
28	EVA_UK10K_ALSPAC	ss1630943057	Apr 01, 2015 (144)
29	EVA_UK10K_TWINSUK	ss1673937090	Apr 01, 2015 (144)
30	EVA_DECODE	ss1694727435	Apr 01, 2015 (144)
31	HAMMER_LAB	ss1807746123	Sep 08, 2015 (146)
32	WEILL_CORNELL_DGM	ss1934098471	Feb 12, 2016 (147)
33	JJLAB	ss2027822594	Sep 14, 2016 (149)
34	USC_VALOUEV	ss2156189224	Dec 20, 2016 (150)
35	HUMAN_LONGEVITY	ss2198973390	Dec 20, 2016 (150)
36	SYSTEMSBIOZJU	ss2628398961	Nov 08, 2017 (151)
37	GRF	ss2700582812	Nov 08, 2017 (151)
38	GNOMAD	ss2923251997	Nov 08, 2017 (151)
39	SWEGEN	ss3011540663	Nov 08, 2017 (151)
40	BIOINF_KMB_FNS_UNIBA	ss3027732530	Nov 08, 2017 (151)
41	CSHL	ss3350611862	Nov 08, 2017 (151)
42	URBANLAB	ss3650110709	Oct 12, 2018 (152)
43	EGCUT_WGS	ss3678823601	Jul 13, 2019 (153)
44	EVA_DECODE	ss3695919770	Jul 13, 2019 (153)
45	ACPOP	ss3740035251	Jul 13, 2019 (153)
46	EVA	ss3751851875	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3817183841	Jul 13, 2019 (153)
48	EVA	ss3833715716	Apr 27, 2020 (154)
49	EVA	ss3840447237	Apr 27, 2020 (154)
50	EVA	ss3845934696	Apr 27, 2020 (154)
51	SGDP_PRJ	ss3880641805	Apr 27, 2020 (154)
52	KRGDB	ss3929561980	Apr 27, 2020 (154)
53	KOGIC	ss3974153417	Apr 27, 2020 (154)
54	TOPMED	ss4957676819	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5211424543	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5294836834	Oct 16, 2022 (156)
57	EVA	ss5412781009	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5489090241	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5594426443	Oct 16, 2022 (156)
60	SANFORD_IMAGENETICS	ss5655417179	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5763690689	Oct 16, 2022 (156)
62	YY_MCH	ss5814394389	Oct 16, 2022 (156)
63	EVA	ss5839915041	Oct 16, 2022 (156)
64	EVA	ss5850868998	Oct 16, 2022 (156)
65	EVA	ss5926367788	Oct 16, 2022 (156)
66	EVA	ss5946856124	Oct 16, 2022 (156)
67	1000Genomes	NC_000013.10 - 95939359	Oct 12, 2018 (152)
68	1000Genomes_30x	NC_000013.11 - 95287105	Oct 16, 2022 (156)
69	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 95939359	Oct 12, 2018 (152)
70	Genetic variation in the Estonian population	NC_000013.10 - 95939359	Oct 12, 2018 (152)
71	The Danish reference pan genome	NC_000013.10 - 95939359	Apr 27, 2020 (154)
72	gnomAD - Genomes	NC_000013.11 - 95287105	Apr 26, 2021 (155)
73	Genome of the Netherlands Release 5	NC_000013.10 - 95939359	Apr 27, 2020 (154)
74	KOREAN population from KRGDB	NC_000013.10 - 95939359	Apr 27, 2020 (154)
75	Korean Genome Project	NC_000013.11 - 95287105	Apr 27, 2020 (154)
76	Northern Sweden	NC_000013.10 - 95939359	Jul 13, 2019 (153)
77	Qatari	NC_000013.10 - 95939359	Apr 27, 2020 (154)
78	SGDP_PRJ	NC_000013.10 - 95939359	Apr 27, 2020 (154)
79	Siberian	NC_000013.10 - 95939359	Apr 27, 2020 (154)
80	8.3KJPN	NC_000013.10 - 95939359	Apr 26, 2021 (155)
81	14KJPN	NC_000013.11 - 95287105	Oct 16, 2022 (156)
82	TopMed	NC_000013.11 - 95287105	Apr 26, 2021 (155)
83	UK 10K study - Twins	NC_000013.10 - 95939359	Oct 12, 2018 (152)
84	ALFA	NC_000013.11 - 95287105	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)
rs61217657	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
36739374, ss3929561980	NC_000013.10:95939358:C:A	NC_000013.11:95287104:C:A	(self)
ss83491569, ss89807633, ss168578653, ss170509296, ss199585323, ss208699669, ss281842616, ss286767881, ss291512129, ss1694727435	NC_000013.9:94737359:C:G	NC_000013.11:95287104:C:G	(self)
62401128, 34670821, 24561849, 3438551, 15481473, 36739374, 13320116, 16140401, 32658785, 8705578, 69393850, 34670821, ss226358698, ss236387118, ss242852156, ss563853662, ss659494819, ss990737427, ss1079349145, ss1349478760, ss1427293602, ss1577000722, ss1630943057, ss1673937090, ss1807746123, ss1934098471, ss2027822594, ss2156189224, ss2628398961, ss2700582812, ss2923251997, ss3011540663, ss3350611862, ss3678823601, ss3740035251, ss3751851875, ss3833715716, ss3840447237, ss3880641805, ss3929561980, ss5211424543, ss5412781009, ss5655417179, ss5839915041, ss5946856124	NC_000013.10:95939358:C:G	NC_000013.11:95287104:C:G	(self)
81952378, 440063290, 30531418, 97527793, 173222477, 14612065403, ss2198973390, ss3027732530, ss3650110709, ss3695919770, ss3817183841, ss3845934696, ss3974153417, ss4957676819, ss5294836834, ss5489090241, ss5594426443, ss5763690689, ss5814394389, ss5850868998, ss5926367788	NC_000013.11:95287104:C:G	NC_000013.11:95287104:C:G	(self)
ss12269829, ss13197181	NT_009952.13:9029033:C:G	NC_000013.11:95287104:C:G	(self)
ss16618198, ss17495017, ss19968830, ss21054283, ss133771331, ss143681162	NT_009952.14:9029034:C:G	NC_000013.11:95287104:C:G	(self)
14612065403	NC_000013.11:95287104:C:T	NC_000013.11:95287104:C:T	(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 rs8002908

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

rs8002908