Name: rs987634
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.

rs987634

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:70157895 (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: T=0.464313 (122899/264690, TOPMED)
T=0.483075 (67330/139378, GnomAD)
T=0.48397 (13676/28258, 14KJPN) (+ 17 more)
C=0.46601 (8802/18888, ALFA)
T=0.48013 (8047/16760, 8.3KJPN)
T=0.4240 (2715/6404, 1000G_30x)
T=0.4293 (2150/5008, 1000G)
C=0.3647 (1633/4478, Estonian)
C=0.4235 (1632/3854, ALSPAC)
C=0.4105 (1522/3708, TWINSUK)
T=0.4785 (1402/2930, KOREAN)
T=0.4623 (847/1832, Korea1K)
C=0.4613 (524/1136, Daghestan)
C=0.434 (433/998, GoNL)
C=0.302 (181/600, NorthernSweden)
T=0.329 (137/416, SGDP_PRJ)
T=0.495 (107/216, Qatari)
T=0.376 (79/210, Vietnamese)
C=0.35 (14/40, GENOME_DK)
T=0.40 (16/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC105371882 : 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	18888	T=0.53399	C=0.46601
European	Sub	14284	T=0.59514	C=0.40486
African	Sub	2946	T=0.2461	C=0.7539
African Others	Sub	114	T=0.158	C=0.842
African American	Sub	2832	T=0.2496	C=0.7504
Asian	Sub	112	T=0.536	C=0.464
East Asian	Sub	86	T=0.56	C=0.44
Other Asian	Sub	26	T=0.46	C=0.54
Latin American 1	Sub	146	T=0.486	C=0.514
Latin American 2	Sub	610	T=0.559	C=0.441
South Asian	Sub	98	T=0.50	C=0.50
Other	Sub	692	T=0.490	C=0.510

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=0.464313	C=0.535687
gnomAD - Genomes	Global	Study-wide	139378	T=0.483075	C=0.516925
gnomAD - Genomes	European	Sub	75614	T=0.59263	C=0.40737
gnomAD - Genomes	African	Sub	41618	T=0.25696	C=0.74304
gnomAD - Genomes	American	Sub	13570	T=0.54127	C=0.45873
gnomAD - Genomes	Ashkenazi Jewish	Sub	3312	T=0.5963	C=0.4037
gnomAD - Genomes	East Asian	Sub	3118	T=0.4666	C=0.5334
gnomAD - Genomes	Other	Sub	2146	T=0.4893	C=0.5107
14KJPN	JAPANESE	Study-wide	28258	T=0.48397	C=0.51603
Allele Frequency Aggregator	Total	Global	18888	T=0.53399	C=0.46601
Allele Frequency Aggregator	European	Sub	14284	T=0.59514	C=0.40486
Allele Frequency Aggregator	African	Sub	2946	T=0.2461	C=0.7539
Allele Frequency Aggregator	Other	Sub	692	T=0.490	C=0.510
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.559	C=0.441
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.486	C=0.514
Allele Frequency Aggregator	Asian	Sub	112	T=0.536	C=0.464
Allele Frequency Aggregator	South Asian	Sub	98	T=0.50	C=0.50
8.3KJPN	JAPANESE	Study-wide	16760	T=0.48013	C=0.51987
1000Genomes_30x	Global	Study-wide	6404	T=0.4240	C=0.5760
1000Genomes_30x	African	Sub	1786	T=0.1697	C=0.8303
1000Genomes_30x	Europe	Sub	1266	T=0.5829	C=0.4171
1000Genomes_30x	South Asian	Sub	1202	T=0.5399	C=0.4601
1000Genomes_30x	East Asian	Sub	1170	T=0.4427	C=0.5573
1000Genomes_30x	American	Sub	980	T=0.517	C=0.483
1000Genomes	Global	Study-wide	5008	T=0.4293	C=0.5707
1000Genomes	African	Sub	1322	T=0.1664	C=0.8336
1000Genomes	East Asian	Sub	1008	T=0.4454	C=0.5546
1000Genomes	Europe	Sub	1006	T=0.5825	C=0.4175
1000Genomes	South Asian	Sub	978	T=0.545	C=0.455
1000Genomes	American	Sub	694	T=0.522	C=0.478
Genetic variation in the Estonian population	Estonian	Study-wide	4478	T=0.6353	C=0.3647
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5765	C=0.4235
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5895	C=0.4105
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.4785	C=0.5215
Korean Genome Project	KOREAN	Study-wide	1832	T=0.4623	C=0.5377
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.5387	C=0.4613
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.532	C=0.468
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.521	C=0.479
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.508	C=0.492
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.583	C=0.417
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.53	C=0.47
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.72	C=0.28
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.566	C=0.434
Northern Sweden	ACPOP	Study-wide	600	T=0.698	C=0.302
SGDP_PRJ	Global	Study-wide	416	T=0.329	C=0.671
Qatari	Global	Study-wide	216	T=0.495	C=0.505
A Vietnamese Genetic Variation Database	Global	Study-wide	210	T=0.376	C=0.624
The Danish reference pan genome	Danish	Study-wide	40	T=0.65	C=0.35
Siberian	Global	Study-wide	40	T=0.40	C=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 17	NC_000017.11:g.70157895T>C
GRCh37.p13 chr 17	NC_000017.10:g.68154036T>C

Gene: LOC105371882, uncharacterized LOC105371882 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105371882 transcript	XR_934953.3:n.	N/A	Intron 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	T=	C
GRCh38.p14 chr 17	NC_000017.11:g.70157895=	NC_000017.11:g.70157895T>C
GRCh37.p13 chr 17	NC_000017.10:g.68154036=	NC_000017.10:g.68154036T>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#.

78 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1443122	Oct 05, 2000 (86)
2	BCM_SSAHASNP	ss10877121	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss12412704	Jul 11, 2003 (116)
4	BCM_SSAHASNP	ss14277619	Dec 05, 2003 (119)
5	SSAHASNP	ss21372549	Apr 05, 2004 (121)
6	ABI	ss44017734	Mar 14, 2006 (126)
7	HGSV	ss78593753	Dec 06, 2007 (129)
8	BCMHGSC_JDW	ss90648754	Mar 24, 2008 (129)
9	HUMANGENOME_JCVI	ss96608233	Feb 06, 2009 (130)
10	BGI	ss103359186	Feb 21, 2009 (130)
11	1000GENOMES	ss109890594	Jan 24, 2009 (130)
12	1000GENOMES	ss113779081	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss118113987	Feb 14, 2009 (130)
14	ENSEMBL	ss132633727	Dec 01, 2009 (131)
15	ENSEMBL	ss137165349	Dec 01, 2009 (131)
16	GMI	ss154589545	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss168447144	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss170109163	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss171677197	Jul 04, 2010 (132)
20	BUSHMAN	ss202734680	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss207819587	Jul 04, 2010 (132)
22	1000GENOMES	ss227635514	Jul 14, 2010 (132)
23	1000GENOMES	ss237307372	Jul 15, 2010 (132)
24	1000GENOMES	ss243588920	Jul 15, 2010 (132)
25	BL	ss255765377	May 09, 2011 (134)
26	GMI	ss282828275	May 04, 2012 (137)
27	PJP	ss291987051	May 09, 2011 (134)
28	TISHKOFF	ss565381498	Apr 25, 2013 (138)
29	SSMP	ss661193213	Apr 25, 2013 (138)
30	EVA-GONL	ss993294408	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1081186715	Aug 21, 2014 (142)
32	1000GENOMES	ss1359390670	Aug 21, 2014 (142)
33	HAMMER_LAB	ss1397734353	Sep 08, 2015 (146)
34	DDI	ss1428085797	Apr 01, 2015 (144)
35	EVA_GENOME_DK	ss1578228366	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1636025469	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1679019502	Apr 01, 2015 (144)
38	EVA_DECODE	ss1697343643	Apr 01, 2015 (144)
39	HAMMER_LAB	ss1808863373	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1936755673	Feb 12, 2016 (147)
41	GENOMED	ss1968426752	Jul 19, 2016 (147)
42	JJLAB	ss2029149882	Sep 14, 2016 (149)
43	USC_VALOUEV	ss2157633597	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2218308140	Dec 20, 2016 (150)
45	SYSTEMSBIOZJU	ss2629069773	Nov 08, 2017 (151)
46	GRF	ss2702198598	Nov 08, 2017 (151)
47	GNOMAD	ss2952040437	Nov 08, 2017 (151)
48	SWEGEN	ss3015840433	Nov 08, 2017 (151)
49	BIOINF_KMB_FNS_UNIBA	ss3028397295	Nov 08, 2017 (151)
50	CSHL	ss3351822212	Nov 08, 2017 (151)
51	URBANLAB	ss3650693719	Oct 12, 2018 (152)
52	EGCUT_WGS	ss3682705224	Jul 13, 2019 (153)
53	EVA_DECODE	ss3700836617	Jul 13, 2019 (153)
54	ACPOP	ss3742182149	Jul 13, 2019 (153)
55	EVA	ss3754884424	Jul 13, 2019 (153)
56	PACBIO	ss3788256727	Jul 13, 2019 (153)
57	PACBIO	ss3793203673	Jul 13, 2019 (153)
58	PACBIO	ss3798089634	Jul 13, 2019 (153)
59	KHV_HUMAN_GENOMES	ss3820151497	Jul 13, 2019 (153)
60	EVA	ss3834957755	Apr 27, 2020 (154)
61	EVA	ss3841091080	Apr 27, 2020 (154)
62	EVA	ss3846589130	Apr 27, 2020 (154)
63	SGDP_PRJ	ss3886134643	Apr 27, 2020 (154)
64	KRGDB	ss3935898635	Apr 27, 2020 (154)
65	KOGIC	ss3979217269	Apr 27, 2020 (154)
66	TOPMED	ss5042556820	Apr 27, 2021 (155)
67	TOMMO_GENOMICS	ss5223300511	Apr 27, 2021 (155)
68	1000G_HIGH_COVERAGE	ss5303797611	Oct 16, 2022 (156)
69	EVA	ss5428779941	Oct 16, 2022 (156)
70	HUGCELL_USP	ss5496774328	Oct 16, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5607836957	Oct 16, 2022 (156)
72	SANFORD_IMAGENETICS	ss5660466087	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5779791729	Oct 16, 2022 (156)
74	YY_MCH	ss5816694741	Oct 16, 2022 (156)
75	EVA	ss5834233737	Oct 16, 2022 (156)
76	EVA	ss5851879267	Oct 16, 2022 (156)
77	EVA	ss5914672367	Oct 16, 2022 (156)
78	EVA	ss5951864465	Oct 16, 2022 (156)
79	1000Genomes	NC_000017.10 - 68154036	Oct 12, 2018 (152)
80	1000Genomes_30x	NC_000017.11 - 70157895	Oct 16, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 68154036	Oct 12, 2018 (152)
82	Genome-wide autozygosity in Daghestan	NC_000017.9 - 65665631	Apr 27, 2020 (154)
83	Genetic variation in the Estonian population	NC_000017.10 - 68154036	Oct 12, 2018 (152)
84	The Danish reference pan genome	NC_000017.10 - 68154036	Apr 27, 2020 (154)
85	gnomAD - Genomes	NC_000017.11 - 70157895	Apr 27, 2021 (155)
86	Genome of the Netherlands Release 5	NC_000017.10 - 68154036	Apr 27, 2020 (154)
87	KOREAN population from KRGDB	NC_000017.10 - 68154036	Apr 27, 2020 (154)
88	Korean Genome Project	NC_000017.11 - 70157895	Apr 27, 2020 (154)
89	Northern Sweden	NC_000017.10 - 68154036	Jul 13, 2019 (153)
90	Qatari	NC_000017.10 - 68154036	Apr 27, 2020 (154)
91	SGDP_PRJ	NC_000017.10 - 68154036	Apr 27, 2020 (154)
92	Siberian	NC_000017.10 - 68154036	Apr 27, 2020 (154)
93	8.3KJPN	NC_000017.10 - 68154036	Apr 27, 2021 (155)
94	14KJPN	NC_000017.11 - 70157895	Oct 16, 2022 (156)
95	TopMed	NC_000017.11 - 70157895	Apr 27, 2021 (155)
96	UK 10K study - Twins	NC_000017.10 - 68154036	Oct 12, 2018 (152)
97	A Vietnamese Genetic Variation Database	NC_000017.10 - 68154036	Jul 13, 2019 (153)
98	ALFA	NC_000017.11 - 70157895	Apr 27, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
204180, ss78593753, ss90648754, ss109890594, ss113779081, ss118113987, ss168447144, ss170109163, ss171677197, ss202734680, ss207819587, ss255765377, ss282828275, ss291987051, ss1397734353, ss1697343643	NC_000017.9:65665630:T:C	NC_000017.11:70157894:T:C	(self)
72661097, 40262980, 28443472, 4427739, 17938627, 43076029, 15467014, 18797595, 38151623, 10149951, 81269818, 40262980, 8900152, ss227635514, ss237307372, ss243588920, ss565381498, ss661193213, ss993294408, ss1081186715, ss1359390670, ss1428085797, ss1578228366, ss1636025469, ss1679019502, ss1808863373, ss1936755673, ss1968426752, ss2029149882, ss2157633597, ss2629069773, ss2702198598, ss2952040437, ss3015840433, ss3351822212, ss3682705224, ss3742182149, ss3754884424, ss3788256727, ss3793203673, ss3798089634, ss3834957755, ss3841091080, ss3886134643, ss3935898635, ss5223300511, ss5428779941, ss5660466087, ss5834233737, ss5951864465	NC_000017.10:68154035:T:C	NC_000017.11:70157894:T:C	(self)
95362892, 512790448, 35595270, 113628833, 258102482, 13190464295, ss2218308140, ss3028397295, ss3650693719, ss3700836617, ss3820151497, ss3846589130, ss3979217269, ss5042556820, ss5303797611, ss5496774328, ss5607836957, ss5779791729, ss5816694741, ss5851879267, ss5914672367	NC_000017.11:70157894:T:C	NC_000017.11:70157894:T:C	(self)
ss10877121, ss12412704	NT_010641.13:2046196:T:C	NC_000017.11:70157894:T:C	(self)
ss14277619, ss21372549	NT_010641.14:2046196:T:C	NC_000017.11:70157894:T:C	(self)
ss1443122, ss44017734, ss96608233, ss103359186, ss132633727, ss137165349, ss154589545	NT_010783.15:33428187:T:C	NC_000017.11:70157894: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 rs987634

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

rs987634