Name: rs4897702
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.

rs4897702

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:134244688 (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>C / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.382803 (101324/264690, TOPMED)
A=0.409590 (57341/139996, GnomAD)
A=0.43878 (12399/28258, 14KJPN) (+ 17 more)
A=0.46969 (8413/17912, ALFA)
A=0.44045 (7382/16760, 8.3KJPN)
A=0.3843 (2461/6404, 1000G_30x)
A=0.3912 (1959/5008, 1000G)
T=0.4368 (1957/4480, Estonian)
T=0.4769 (1838/3854, ALSPAC)
T=0.4989 (1850/3708, TWINSUK)
A=0.4273 (1252/2930, KOREAN)
A=0.3286 (621/1890, HapMap)
A=0.4427 (811/1832, Korea1K)
T=0.459 (458/998, GoNL)
T=0.460 (276/600, NorthernSweden)
A=0.291 (124/426, SGDP_PRJ)
A=0.282 (61/216, Qatari)
A=0.444 (96/216, Vietnamese)
A=0.47 (19/40, GENOME_DK)
A=0.34 (13/38, 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	17912	A=0.46969	C=0.00000, T=0.53031
European	Sub	13812	A=0.52845	C=0.00000, T=0.47155
African	Sub	2446	A=0.1881	C=0.0000, T=0.8119
African Others	Sub	90	A=0.09	C=0.00, T=0.91
African American	Sub	2356	A=0.1919	C=0.0000, T=0.8081
Asian	Sub	112	A=0.411	C=0.000, T=0.589
East Asian	Sub	86	A=0.40	C=0.00, T=0.60
Other Asian	Sub	26	A=0.46	C=0.00, T=0.54
Latin American 1	Sub	146	A=0.281	C=0.000, T=0.719
Latin American 2	Sub	610	A=0.418	C=0.000, T=0.582
South Asian	Sub	98	A=0.62	C=0.00, T=0.38
Other	Sub	688	A=0.365	C=0.000, T=0.635

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	A=0.382803	T=0.617197
gnomAD - Genomes	Global	Study-wide	139996	A=0.409590	T=0.590410
gnomAD - Genomes	European	Sub	75806	A=0.53268	T=0.46732
gnomAD - Genomes	African	Sub	41982	A=0.17846	T=0.82154
gnomAD - Genomes	American	Sub	13616	A=0.41723	T=0.58277
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.4801	T=0.5199
gnomAD - Genomes	East Asian	Sub	3118	A=0.4413	T=0.5587
gnomAD - Genomes	Other	Sub	2150	A=0.3795	T=0.6205
14KJPN	JAPANESE	Study-wide	28258	A=0.43878	T=0.56122
Allele Frequency Aggregator	Total	Global	17912	A=0.46969	C=0.00000, T=0.53031
Allele Frequency Aggregator	European	Sub	13812	A=0.52845	C=0.00000, T=0.47155
Allele Frequency Aggregator	African	Sub	2446	A=0.1881	C=0.0000, T=0.8119
Allele Frequency Aggregator	Other	Sub	688	A=0.365	C=0.000, T=0.635
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.418	C=0.000, T=0.582
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.281	C=0.000, T=0.719
Allele Frequency Aggregator	Asian	Sub	112	A=0.411	C=0.000, T=0.589
Allele Frequency Aggregator	South Asian	Sub	98	A=0.62	C=0.00, T=0.38
8.3KJPN	JAPANESE	Study-wide	16760	A=0.44045	T=0.55955
1000Genomes_30x	Global	Study-wide	6404	A=0.3843	T=0.6157
1000Genomes_30x	African	Sub	1786	A=0.1137	T=0.8863
1000Genomes_30x	Europe	Sub	1266	A=0.5237	T=0.4763
1000Genomes_30x	South Asian	Sub	1202	A=0.5383	T=0.4617
1000Genomes_30x	East Asian	Sub	1170	A=0.4308	T=0.5692
1000Genomes_30x	American	Sub	980	A=0.453	T=0.547
1000Genomes	Global	Study-wide	5008	A=0.3912	T=0.6088
1000Genomes	African	Sub	1322	A=0.1210	T=0.8790
1000Genomes	East Asian	Sub	1008	A=0.4325	T=0.5675
1000Genomes	Europe	Sub	1006	A=0.5229	T=0.4771
1000Genomes	South Asian	Sub	978	A=0.529	T=0.471
1000Genomes	American	Sub	694	A=0.461	T=0.539
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5632	T=0.4368
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5231	T=0.4769
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5011	T=0.4989
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4273	C=0.0000, T=0.5727
HapMap	Global	Study-wide	1890	A=0.3286	T=0.6714
HapMap	American	Sub	768	A=0.439	T=0.561
HapMap	African	Sub	692	A=0.107	T=0.893
HapMap	Asian	Sub	254	A=0.476	T=0.524
HapMap	Europe	Sub	176	A=0.506	T=0.494
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4427	T=0.5573
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.541	T=0.459
Northern Sweden	ACPOP	Study-wide	600	A=0.540	T=0.460
SGDP_PRJ	Global	Study-wide	426	A=0.291	T=0.709
Qatari	Global	Study-wide	216	A=0.282	T=0.718
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.444	T=0.556
The Danish reference pan genome	Danish	Study-wide	40	A=0.47	T=0.53
Siberian	Global	Study-wide	38	A=0.34	T=0.66

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 8	NC_000008.11:g.134244688A>C
GRCh38.p14 chr 8	NC_000008.11:g.134244688A>T
GRCh37.p13 chr 8	NC_000008.10:g.135256931A>C
GRCh37.p13 chr 8	NC_000008.10:g.135256931A>T

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	A=	C	T
GRCh38.p14 chr 8	NC_000008.11:g.134244688=	NC_000008.11:g.134244688A>C	NC_000008.11:g.134244688A>T
GRCh37.p13 chr 8	NC_000008.10:g.135256931=	NC_000008.10:g.135256931A>C	NC_000008.10:g.135256931A>T

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#.

77 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6768099	Feb 20, 2003 (111)
2	BCM_SSAHASNP	ss10437738	Jul 11, 2003 (116)
3	CSHL-HAPMAP	ss17982760	Feb 27, 2004 (120)
4	ABI	ss44929867	Mar 15, 2006 (126)
5	AFFY	ss66131843	Dec 02, 2006 (127)
6	AFFY	ss76138945	Dec 08, 2007 (130)
7	HGSV	ss77681054	Dec 07, 2007 (129)
8	KRIBB_YJKIM	ss82157443	Dec 15, 2007 (130)
9	HGSV	ss83783228	Dec 16, 2007 (130)
10	BCMHGSC_JDW	ss93975012	Mar 25, 2008 (129)
11	BGI	ss104579463	Dec 01, 2009 (131)
12	1000GENOMES	ss108433681	Jan 23, 2009 (130)
13	1000GENOMES	ss113845590	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss116214717	Feb 14, 2009 (130)
15	ENSEMBL	ss143814886	Dec 01, 2009 (131)
16	GMI	ss156942178	Dec 01, 2009 (131)
17	ENSEMBL	ss161613940	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss162837171	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss165805442	Jul 04, 2010 (132)
20	AFFY	ss172616383	Jul 04, 2010 (132)
21	BUSHMAN	ss199839434	Jul 04, 2010 (132)
22	1000GENOMES	ss224009985	Jul 14, 2010 (132)
23	1000GENOMES	ss234649921	Jul 15, 2010 (132)
24	1000GENOMES	ss241458480	Jul 15, 2010 (132)
25	GMI	ss280025507	May 04, 2012 (137)
26	GMI	ss285934745	Apr 25, 2013 (138)
27	PJP	ss294193725	May 09, 2011 (134)
28	TISHKOFF	ss561104882	Apr 25, 2013 (138)
29	SSMP	ss655538553	Apr 25, 2013 (138)
30	EVA-GONL	ss986112319	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1075959034	Aug 21, 2014 (142)
32	1000GENOMES	ss1332119389	Aug 21, 2014 (142)
33	DDI	ss1431687938	Apr 01, 2015 (144)
34	EVA_GENOME_DK	ss1582908407	Apr 01, 2015 (144)
35	EVA_DECODE	ss1595731056	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1621846211	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1664840244	Apr 01, 2015 (144)
38	EVA_SVP	ss1713075431	Apr 01, 2015 (144)
39	HAMMER_LAB	ss1805786506	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1929386665	Feb 12, 2016 (147)
41	GENOMED	ss1971105880	Jul 19, 2016 (147)
42	JJLAB	ss2025397399	Sep 14, 2016 (149)
43	USC_VALOUEV	ss2153626714	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2307805424	Dec 20, 2016 (150)
45	SYSTEMSBIOZJU	ss2627173201	Nov 08, 2017 (151)
46	GRF	ss2709414943	Nov 08, 2017 (151)
47	GNOMAD	ss2873268279	Nov 08, 2017 (151)
48	SWEGEN	ss3004080151	Nov 08, 2017 (151)
49	BIOINF_KMB_FNS_UNIBA	ss3026485495	Nov 08, 2017 (151)
50	CSHL	ss3348430639	Nov 08, 2017 (151)
51	EGCUT_WGS	ss3671807892	Jul 13, 2019 (153)
52	EVA_DECODE	ss3723106509	Jul 13, 2019 (153)
53	ACPOP	ss3736146553	Jul 13, 2019 (153)
54	EVA	ss3768673969	Jul 13, 2019 (153)
55	PACBIO	ss3786294742	Jul 13, 2019 (153)
56	PACBIO	ss3791526117	Jul 13, 2019 (153)
57	PACBIO	ss3796407689	Jul 13, 2019 (153)
58	KHV_HUMAN_GENOMES	ss3811838283	Jul 13, 2019 (153)
59	EVA	ss3831441146	Apr 26, 2020 (154)
60	EVA	ss3839230212	Apr 26, 2020 (154)
61	EVA	ss3844690943	Apr 26, 2020 (154)
62	SGDP_PRJ	ss3871103518	Apr 26, 2020 (154)
63	KRGDB	ss3918710900	Apr 26, 2020 (154)
64	KOGIC	ss3964935488	Apr 26, 2020 (154)
65	TOPMED	ss4805963336	Apr 26, 2021 (155)
66	TOMMO_GENOMICS	ss5191222299	Apr 26, 2021 (155)
67	1000G_HIGH_COVERAGE	ss5279120207	Oct 16, 2022 (156)
68	EVA	ss5384790564	Oct 16, 2022 (156)
69	HUGCELL_USP	ss5475484578	Oct 16, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5570539969	Oct 16, 2022 (156)
71	SANFORD_IMAGENETICS	ss5646517697	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5734010340	Oct 16, 2022 (156)
73	YY_MCH	ss5810177374	Oct 16, 2022 (156)
74	EVA	ss5831294317	Oct 16, 2022 (156)
75	EVA	ss5856592829	Oct 16, 2022 (156)
76	EVA	ss5891237955	Oct 16, 2022 (156)
77	EVA	ss5975777661	Oct 16, 2022 (156)
78	1000Genomes	NC_000008.10 - 135256931	Oct 12, 2018 (152)
79	1000Genomes_30x	NC_000008.11 - 134244688	Oct 16, 2022 (156)
80	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 135256931	Oct 12, 2018 (152)
81	Genetic variation in the Estonian population	NC_000008.10 - 135256931	Oct 12, 2018 (152)
82	The Danish reference pan genome	NC_000008.10 - 135256931	Apr 26, 2020 (154)
83	gnomAD - Genomes	NC_000008.11 - 134244688	Apr 26, 2021 (155)
84	Genome of the Netherlands Release 5	NC_000008.10 - 135256931	Apr 26, 2020 (154)
85	HapMap	NC_000008.11 - 134244688	Apr 26, 2020 (154)
86	KOREAN population from KRGDB	NC_000008.10 - 135256931	Apr 26, 2020 (154)
87	Korean Genome Project	NC_000008.11 - 134244688	Apr 26, 2020 (154)
88	Northern Sweden	NC_000008.10 - 135256931	Jul 13, 2019 (153)
89	Qatari	NC_000008.10 - 135256931	Apr 26, 2020 (154)
90	SGDP_PRJ	NC_000008.10 - 135256931	Apr 26, 2020 (154)
91	Siberian	NC_000008.10 - 135256931	Apr 26, 2020 (154)
92	8.3KJPN	NC_000008.10 - 135256931	Apr 26, 2021 (155)
93	14KJPN	NC_000008.11 - 134244688	Oct 16, 2022 (156)
94	TopMed	NC_000008.11 - 134244688	Apr 26, 2021 (155)
95	UK 10K study - Twins	NC_000008.10 - 135256931	Oct 12, 2018 (152)
96	A Vietnamese Genetic Variation Database	NC_000008.10 - 135256931	Jul 13, 2019 (153)
97	ALFA	NC_000008.11 - 134244688	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)
rs56625361	May 27, 2008 (130)
rs60514163	Feb 27, 2009 (130)
rs61666869	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
25888294, ss3918710900	NC_000008.10:135256930:A:C	NC_000008.11:134244687:A:C	(self)
4642315649	NC_000008.11:134244687:A:C	NC_000008.11:134244687:A:C	(self)
ss66131843, ss76138945, ss77681054, ss83783228, ss93975012, ss108433681, ss113845590, ss116214717, ss162837171, ss165805442, ss172616383, ss199839434, ss280025507, ss285934745, ss294193725, ss1595731056, ss1713075431	NC_000008.9:135326112:A:T	NC_000008.11:134244687:A:T	(self)
44325397, 24670820, 17546140, 9073344, 11006994, 25888294, 9431418, 11428595, 23120498, 6143068, 49191606, 24670820, 5479027, ss224009985, ss234649921, ss241458480, ss561104882, ss655538553, ss986112319, ss1075959034, ss1332119389, ss1431687938, ss1582908407, ss1621846211, ss1664840244, ss1805786506, ss1929386665, ss1971105880, ss2025397399, ss2153626714, ss2627173201, ss2709414943, ss2873268279, ss3004080151, ss3348430639, ss3671807892, ss3736146553, ss3768673969, ss3786294742, ss3791526117, ss3796407689, ss3831441146, ss3839230212, ss3871103518, ss3918710900, ss5191222299, ss5384790564, ss5646517697, ss5831294317, ss5975777661	NC_000008.10:135256930:A:T	NC_000008.11:134244687:A:T	(self)
58065904, 312613728, 3736479, 21313489, 67847444, 643340896, 4642315649, ss2307805424, ss3026485495, ss3723106509, ss3811838283, ss3844690943, ss3964935488, ss4805963336, ss5279120207, ss5475484578, ss5570539969, ss5734010340, ss5810177374, ss5856592829, ss5891237955	NC_000008.11:134244687:A:T	NC_000008.11:134244687:A:T	(self)
ss10437738	NT_008046.13:48477193:A:T	NC_000008.11:134244687:A:T	(self)
ss17982760	NT_008046.14:48475109:A:T	NC_000008.11:134244687:A:T	(self)
ss6768099, ss44929867, ss82157443, ss104579463, ss143814886, ss156942178, ss161613940	NT_008046.16:48530479:A:T	NC_000008.11:134244687:A: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 rs4897702

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

rs4897702