Name: rs351847
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.

rs351847

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:53584952 (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=0.440236 (116526/264690, TOPMED)
C=0.439089 (61468/139990, GnomAD)
C=0.36940 (30681/83056, ALFA) (+ 19 more)
C=0.36620 (10348/28258, 14KJPN)
C=0.36868 (6179/16760, 8.3KJPN)
C=0.4733 (3031/6404, 1000G_30x)
C=0.4694 (2351/5008, 1000G)
C=0.3232 (1448/4480, Estonian)
C=0.3508 (1352/3854, ALSPAC)
C=0.3484 (1292/3708, TWINSUK)
C=0.2696 (790/2930, KOREAN)
C=0.3708 (772/2082, HGDP_Stanford)
T=0.4889 (925/1892, HapMap)
C=0.2598 (476/1832, Korea1K)
C=0.336 (335/998, GoNL)
C=0.288 (173/600, NorthernSweden)
T=0.337 (112/332, SGDP_PRJ)
T=0.412 (89/216, Qatari)
C=0.355 (76/214, Vietnamese)
C=0.35 (14/40, GENOME_DK)
C=0.40 (12/30, Ancient Sardinia)
T=0.41 (9/22, 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	83056	T=0.63060	C=0.36940
European	Sub	69204	T=0.65119	C=0.34881
African	Sub	4722	T=0.3484	C=0.6516
African Others	Sub	180	T=0.311	C=0.689
African American	Sub	4542	T=0.3498	C=0.6502
Asian	Sub	202	T=0.688	C=0.312
East Asian	Sub	160	T=0.706	C=0.294
Other Asian	Sub	42	T=0.62	C=0.38
Latin American 1	Sub	268	T=0.578	C=0.422
Latin American 2	Sub	1316	T=0.7424	C=0.2576
South Asian	Sub	4972	T=0.5819	C=0.4181
Other	Sub	2372	T=0.6328	C=0.3672

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=0.559764	C=0.440236
gnomAD - Genomes	Global	Study-wide	139990	T=0.560911	C=0.439089
gnomAD - Genomes	European	Sub	75830	T=0.64809	C=0.35191
gnomAD - Genomes	African	Sub	41938	T=0.35366	C=0.64634
gnomAD - Genomes	American	Sub	13630	T=0.65121	C=0.34879
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.6934	C=0.3066
gnomAD - Genomes	East Asian	Sub	3122	T=0.6864	C=0.3136
gnomAD - Genomes	Other	Sub	2150	T=0.5693	C=0.4307
Allele Frequency Aggregator	Total	Global	83056	T=0.63060	C=0.36940
Allele Frequency Aggregator	European	Sub	69204	T=0.65119	C=0.34881
Allele Frequency Aggregator	South Asian	Sub	4972	T=0.5819	C=0.4181
Allele Frequency Aggregator	African	Sub	4722	T=0.3484	C=0.6516
Allele Frequency Aggregator	Other	Sub	2372	T=0.6328	C=0.3672
Allele Frequency Aggregator	Latin American 2	Sub	1316	T=0.7424	C=0.2576
Allele Frequency Aggregator	Latin American 1	Sub	268	T=0.578	C=0.422
Allele Frequency Aggregator	Asian	Sub	202	T=0.688	C=0.312
14KJPN	JAPANESE	Study-wide	28258	T=0.63380	C=0.36620
8.3KJPN	JAPANESE	Study-wide	16760	T=0.63132	C=0.36868
1000Genomes_30x	Global	Study-wide	6404	T=0.5267	C=0.4733
1000Genomes_30x	African	Sub	1786	T=0.2693	C=0.7307
1000Genomes_30x	Europe	Sub	1266	T=0.6374	C=0.3626
1000Genomes_30x	South Asian	Sub	1202	T=0.5441	C=0.4559
1000Genomes_30x	East Asian	Sub	1170	T=0.6556	C=0.3444
1000Genomes_30x	American	Sub	980	T=0.678	C=0.322
1000Genomes	Global	Study-wide	5008	T=0.5306	C=0.4694
1000Genomes	African	Sub	1322	T=0.2723	C=0.7277
1000Genomes	East Asian	Sub	1008	T=0.6607	C=0.3393
1000Genomes	Europe	Sub	1006	T=0.6312	C=0.3688
1000Genomes	South Asian	Sub	978	T=0.544	C=0.456
1000Genomes	American	Sub	694	T=0.669	C=0.331
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6768	C=0.3232
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6492	C=0.3508
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6516	C=0.3484
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7304	C=0.2696
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.6292	C=0.3708
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.736	C=0.264
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	412	T=0.633	C=0.367
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.506	C=0.494
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.628	C=0.372
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.384	C=0.616
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.940	C=0.060
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.40	C=0.60
HapMap	Global	Study-wide	1892	T=0.4889	C=0.5111
HapMap	American	Sub	770	T=0.597	C=0.403
HapMap	African	Sub	692	T=0.280	C=0.720
HapMap	Asian	Sub	254	T=0.650	C=0.350
HapMap	Europe	Sub	176	T=0.602	C=0.398
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7402	C=0.2598
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.664	C=0.336
Northern Sweden	ACPOP	Study-wide	600	T=0.712	C=0.288
SGDP_PRJ	Global	Study-wide	332	T=0.337	C=0.663
Qatari	Global	Study-wide	216	T=0.412	C=0.588
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.645	C=0.355
The Danish reference pan genome	Danish	Study-wide	40	T=0.65	C=0.35
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	30	T=0.60	C=0.40
Siberian	Global	Study-wide	22	T=0.41	C=0.59

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 10	NC_000010.11:g.53584952T>C
GRCh37.p13 chr 10	NC_000010.10:g.55344712T>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 10	NC_000010.11:g.53584952=	NC_000010.11:g.53584952T>C
GRCh37.p13 chr 10	NC_000010.10:g.55344712=	NC_000010.10:g.55344712T>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#.

106 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss447032	Jul 12, 2000 (79)
2	SC_JCM	ss511519	Jul 16, 2000 (80)
3	KWOK	ss1703280	Oct 18, 2000 (87)
4	TSC-CSHL	ss2312485	Oct 23, 2000 (88)
5	SC_SNP	ss12955789	Dec 05, 2003 (119)
6	SC_SNP	ss15466304	Feb 27, 2004 (120)
7	ILLUMINA	ss67295831	Nov 30, 2006 (127)
8	ILLUMINA	ss67700104	Nov 30, 2006 (127)
9	ILLUMINA	ss68219556	Dec 12, 2006 (127)
10	ILLUMINA	ss70774451	May 25, 2008 (130)
11	ILLUMINA	ss71350264	May 17, 2007 (127)
12	ILLUMINA	ss75796684	Dec 06, 2007 (129)
13	HGSV	ss77356695	Dec 06, 2007 (129)
14	HGSV	ss78862932	Dec 06, 2007 (129)
15	HGSV	ss82438068	Dec 15, 2007 (130)
16	KRIBB_YJKIM	ss83436026	Dec 15, 2007 (130)
17	BCMHGSC_JDW	ss88212527	Mar 23, 2008 (129)
18	HUMANGENOME_JCVI	ss97649386	Feb 06, 2009 (130)
19	BGI	ss106676320	Feb 06, 2009 (130)
20	1000GENOMES	ss113256508	Jan 25, 2009 (130)
21	ILLUMINA-UK	ss119166985	Feb 15, 2009 (130)
22	ENSEMBL	ss131869899	Dec 01, 2009 (131)
23	ENSEMBL	ss144370523	Dec 01, 2009 (131)
24	ILLUMINA	ss154260831	Dec 01, 2009 (131)
25	GMI	ss155028210	Dec 01, 2009 (131)
26	ILLUMINA	ss159437467	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss169956219	Jul 04, 2010 (132)
28	ILLUMINA	ss173597612	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss174546134	Jul 04, 2010 (132)
30	BUSHMAN	ss201522413	Jul 04, 2010 (132)
31	1000GENOMES	ss224726049	Jul 14, 2010 (132)
32	1000GENOMES	ss235175703	Jul 15, 2010 (132)
33	1000GENOMES	ss241882314	Jul 15, 2010 (132)
34	GMI	ss280617577	May 04, 2012 (137)
35	GMI	ss286189770	Apr 25, 2013 (138)
36	PJP	ss290837586	May 09, 2011 (134)
37	ILLUMINA	ss482610276	May 04, 2012 (137)
38	ILLUMINA	ss483958183	May 04, 2012 (137)
39	ILLUMINA	ss536152007	Sep 08, 2015 (146)
40	TISHKOFF	ss561958161	Apr 25, 2013 (138)
41	SSMP	ss656730781	Apr 25, 2013 (138)
42	ILLUMINA	ss779434146	Sep 08, 2015 (146)
43	ILLUMINA	ss782423103	Sep 08, 2015 (146)
44	ILLUMINA	ss832949054	Jul 13, 2019 (153)
45	ILLUMINA	ss834903517	Sep 08, 2015 (146)
46	EVA-GONL	ss987492078	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1076986877	Aug 21, 2014 (142)
48	1000GENOMES	ss1337459617	Aug 21, 2014 (142)
49	DDI	ss1426320972	Apr 01, 2015 (144)
50	EVA_GENOME_DK	ss1575114481	Apr 01, 2015 (144)
51	EVA_DECODE	ss1597155965	Apr 01, 2015 (144)
52	EVA_UK10K_ALSPAC	ss1624578639	Apr 01, 2015 (144)
53	EVA_UK10K_TWINSUK	ss1667572672	Apr 01, 2015 (144)
54	EVA_SVP	ss1713179918	Apr 01, 2015 (144)
55	HAMMER_LAB	ss1806389765	Sep 08, 2015 (146)
56	WEILL_CORNELL_DGM	ss1930853766	Feb 12, 2016 (147)
57	JJLAB	ss2026148294	Sep 14, 2016 (149)
58	USC_VALOUEV	ss2154421609	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2174801629	Dec 20, 2016 (150)
60	SYSTEMSBIOZJU	ss2627544647	Nov 08, 2017 (151)
61	ILLUMINA	ss2632712084	Nov 08, 2017 (151)
62	GRF	ss2698664845	Nov 08, 2017 (151)
63	GNOMAD	ss2888850213	Nov 08, 2017 (151)
64	SWEGEN	ss3006484126	Nov 08, 2017 (151)
65	BIOINF_KMB_FNS_UNIBA	ss3026863498	Nov 08, 2017 (151)
66	CSHL	ss3349122612	Nov 08, 2017 (151)
67	ILLUMINA	ss3626447995	Oct 12, 2018 (152)
68	ILLUMINA	ss3630737769	Oct 12, 2018 (152)
69	ILLUMINA	ss3637850315	Oct 12, 2018 (152)
70	ILLUMINA	ss3638941056	Oct 12, 2018 (152)
71	ILLUMINA	ss3639781986	Oct 12, 2018 (152)
72	ILLUMINA	ss3642853804	Oct 12, 2018 (152)
73	ILLUMINA	ss3643834706	Oct 12, 2018 (152)
74	URBANLAB	ss3649370809	Oct 12, 2018 (152)
75	EGCUT_WGS	ss3673897749	Jul 13, 2019 (153)
76	EVA_DECODE	ss3689888811	Jul 13, 2019 (153)
77	ACPOP	ss3737322995	Jul 13, 2019 (153)
78	EVA	ss3748108526	Jul 13, 2019 (153)
79	PACBIO	ss3786671467	Jul 13, 2019 (153)
80	PACBIO	ss3791851717	Jul 13, 2019 (153)
81	PACBIO	ss3796733697	Jul 13, 2019 (153)
82	KHV_HUMAN_GENOMES	ss3813481529	Jul 13, 2019 (153)
83	EVA	ss3832124913	Apr 26, 2020 (154)
84	EVA	ss3839599220	Apr 26, 2020 (154)
85	EVA	ss3845071042	Apr 26, 2020 (154)
86	HGDP	ss3847385968	Apr 26, 2020 (154)
87	SGDP_PRJ	ss3874220445	Apr 26, 2020 (154)
88	KRGDB	ss3922282456	Apr 26, 2020 (154)
89	KOGIC	ss3967897554	Apr 26, 2020 (154)
90	EVA	ss3985475171	Apr 26, 2021 (155)
91	EVA	ss4017485800	Apr 26, 2021 (155)
92	TOPMED	ss4852614964	Apr 26, 2021 (155)
93	TOMMO_GENOMICS	ss5197662461	Apr 26, 2021 (155)
94	1000G_HIGH_COVERAGE	ss5284063265	Oct 16, 2022 (156)
95	EVA	ss5315473357	Oct 16, 2022 (156)
96	EVA	ss5393499976	Oct 16, 2022 (156)
97	HUGCELL_USP	ss5479639245	Oct 16, 2022 (156)
98	EVA	ss5510014516	Oct 16, 2022 (156)
99	1000G_HIGH_COVERAGE	ss5578013518	Oct 16, 2022 (156)
100	SANFORD_IMAGENETICS	ss5649293895	Oct 16, 2022 (156)
101	TOMMO_GENOMICS	ss5743503040	Oct 16, 2022 (156)
102	YY_MCH	ss5811535795	Oct 16, 2022 (156)
103	EVA	ss5824401701	Oct 16, 2022 (156)
104	EVA	ss5849566199	Oct 16, 2022 (156)
105	EVA	ss5878923320	Oct 16, 2022 (156)
106	EVA	ss5940561329	Oct 16, 2022 (156)
107	1000Genomes	NC_000010.10 - 55344712	Oct 12, 2018 (152)
108	1000Genomes_30x	NC_000010.11 - 53584952	Oct 16, 2022 (156)
109	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 55344712	Oct 12, 2018 (152)
110	Genetic variation in the Estonian population	NC_000010.10 - 55344712	Oct 12, 2018 (152)
111	The Danish reference pan genome	NC_000010.10 - 55344712	Apr 26, 2020 (154)
112	gnomAD - Genomes	NC_000010.11 - 53584952	Apr 26, 2021 (155)
113	Genome of the Netherlands Release 5	NC_000010.10 - 55344712	Apr 26, 2020 (154)
114	HGDP-CEPH-db Supplement 1	NC_000010.9 - 55014718	Apr 26, 2020 (154)
115	HapMap	NC_000010.11 - 53584952	Apr 26, 2020 (154)
116	KOREAN population from KRGDB	NC_000010.10 - 55344712	Apr 26, 2020 (154)
117	Korean Genome Project	NC_000010.11 - 53584952	Apr 26, 2020 (154)
118	Northern Sweden	NC_000010.10 - 55344712	Jul 13, 2019 (153)
119	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 55344712	Apr 26, 2021 (155)
120	Qatari	NC_000010.10 - 55344712	Apr 26, 2020 (154)
121	SGDP_PRJ	NC_000010.10 - 55344712	Apr 26, 2020 (154)
122	Siberian	NC_000010.10 - 55344712	Apr 26, 2020 (154)
123	8.3KJPN	NC_000010.10 - 55344712	Apr 26, 2021 (155)
124	14KJPN	NC_000010.11 - 53584952	Oct 16, 2022 (156)
125	TopMed	NC_000010.11 - 53584952	Apr 26, 2021 (155)
126	UK 10K study - Twins	NC_000010.10 - 55344712	Oct 12, 2018 (152)
127	A Vietnamese Genetic Variation Database	NC_000010.10 - 55344712	Jul 13, 2019 (153)
128	ALFA	NC_000010.11 - 53584952	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)
rs60338540	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77356695, ss78862932, ss82438068, ss3638941056, ss3639781986, ss3643834706	NC_000010.8:55014717:T:C	NC_000010.11:53584951:T:C	(self)
63860, ss88212527, ss113256508, ss119166985, ss169956219, ss174546134, ss201522413, ss280617577, ss286189770, ss290837586, ss482610276, ss1597155965, ss1713179918, ss3642853804, ss3847385968	NC_000010.9:55014717:T:C	NC_000010.11:53584951:T:C	(self)
49847446, 27666429, 19635997, 2157309, 12335806, 29459850, 10607860, 701098, 12895696, 26237425, 6937963, 55631768, 27666429, 6141553, ss224726049, ss235175703, ss241882314, ss483958183, ss536152007, ss561958161, ss656730781, ss779434146, ss782423103, ss832949054, ss834903517, ss987492078, ss1076986877, ss1337459617, ss1426320972, ss1575114481, ss1624578639, ss1667572672, ss1806389765, ss1930853766, ss2026148294, ss2154421609, ss2627544647, ss2632712084, ss2698664845, ss2888850213, ss3006484126, ss3349122612, ss3626447995, ss3630737769, ss3637850315, ss3673897749, ss3737322995, ss3748108526, ss3786671467, ss3791851717, ss3796733697, ss3832124913, ss3839599220, ss3874220445, ss3922282456, ss3985475171, ss4017485800, ss5197662461, ss5315473357, ss5393499976, ss5510014516, ss5649293895, ss5824401701, ss5940561329	NC_000010.10:55344711:T:C	NC_000010.11:53584951:T:C	(self)
65539453, 352377905, 402288, 24275555, 77340144, 68160619, 13398240983, ss2174801629, ss3026863498, ss3649370809, ss3689888811, ss3813481529, ss3845071042, ss3967897554, ss4852614964, ss5284063265, ss5479639245, ss5578013518, ss5743503040, ss5811535795, ss5849566199, ss5878923320	NC_000010.11:53584951:T:C	NC_000010.11:53584951:T:C	(self)
ss12955789	NT_008583.15:3895866:T:C	NC_000010.11:53584951:T:C	(self)
ss15466304	NT_008583.16:3895866:T:C	NC_000010.11:53584951:T:C	(self)
ss447032, ss511519, ss1703280, ss2312485, ss67295831, ss67700104, ss68219556, ss70774451, ss71350264, ss75796684, ss83436026, ss97649386, ss106676320, ss131869899, ss144370523, ss154260831, ss155028210, ss159437467, ss173597612	NT_030059.13:6149175:T:C	NC_000010.11:53584951: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 rs351847

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

rs351847