Name: rs8100217
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.

rs8100217

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:257507 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.350308 (92723/264690, TOPMED)
G=0.336026 (47045/140004, GnomAD)
A=0.17790 (5027/28258, 14KJPN) (+ 13 more)
G=0.35167 (6643/18890, ALFA)
A=0.17989 (3015/16760, 8.3KJPN)
G=0.4549 (2278/5008, 1000G)
G=0.4188 (1614/3854, ALSPAC)
G=0.4094 (1518/3708, TWINSUK)
A=0.1708 (499/2922, KOREAN)
A=0.1752 (321/1832, Korea1K)
G=0.423 (422/998, GoNL)
G=0.420 (252/600, NorthernSweden)
G=0.257 (96/374, SGDP_PRJ)
G=0.370 (80/216, Qatari)
G=0.32 (14/44, Siberian)
A=0.45 (18/40, GENOME_DK)

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	18890	G=0.35167	A=0.64833
European	Sub	14286	G=0.38387	A=0.61613
African	Sub	2946	G=0.1439	A=0.8561
African Others	Sub	114	G=0.079	A=0.921
African American	Sub	2832	G=0.1465	A=0.8535
Asian	Sub	112	G=0.857	A=0.143
East Asian	Sub	86	G=0.90	A=0.10
Other Asian	Sub	26	G=0.73	A=0.27
Latin American 1	Sub	146	G=0.322	A=0.678
Latin American 2	Sub	610	G=0.490	A=0.510
South Asian	Sub	98	G=0.55	A=0.45
Other	Sub	692	G=0.345	A=0.655

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	G=0.350308	A=0.649692
gnomAD - Genomes	Global	Study-wide	140004	G=0.336026	A=0.663974
gnomAD - Genomes	European	Sub	75814	G=0.39486	A=0.60514
gnomAD - Genomes	African	Sub	41972	G=0.15017	A=0.84983
gnomAD - Genomes	American	Sub	13638	G=0.46172	A=0.53828
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.3087	A=0.6913
gnomAD - Genomes	East Asian	Sub	3108	G=0.8697	A=0.1303
gnomAD - Genomes	Other	Sub	2152	G=0.3629	A=0.6371
14KJPN	JAPANESE	Study-wide	28258	G=0.82210	A=0.17790
Allele Frequency Aggregator	Total	Global	18890	G=0.35167	A=0.64833
Allele Frequency Aggregator	European	Sub	14286	G=0.38387	A=0.61613
Allele Frequency Aggregator	African	Sub	2946	G=0.1439	A=0.8561
Allele Frequency Aggregator	Other	Sub	692	G=0.345	A=0.655
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.490	A=0.510
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.322	A=0.678
Allele Frequency Aggregator	Asian	Sub	112	G=0.857	A=0.143
Allele Frequency Aggregator	South Asian	Sub	98	G=0.55	A=0.45
8.3KJPN	JAPANESE	Study-wide	16760	G=0.82011	A=0.17989
1000Genomes	Global	Study-wide	5008	G=0.4549	A=0.5451
1000Genomes	African	Sub	1322	G=0.1165	A=0.8835
1000Genomes	East Asian	Sub	1008	G=0.8760	A=0.1240
1000Genomes	Europe	Sub	1006	G=0.3748	A=0.6252
1000Genomes	South Asian	Sub	978	G=0.534	A=0.466
1000Genomes	American	Sub	694	G=0.493	A=0.507
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.4188	A=0.5812
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4094	A=0.5906
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.8292	A=0.1708
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8248	A=0.1752
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.423	A=0.577
Northern Sweden	ACPOP	Study-wide	600	G=0.420	A=0.580
SGDP_PRJ	Global	Study-wide	374	G=0.257	A=0.743
Qatari	Global	Study-wide	216	G=0.370	A=0.630
Siberian	Global	Study-wide	44	G=0.32	A=0.68
The Danish reference pan genome	Danish	Study-wide	40	G=0.55	A=0.45

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 19	NC_000019.10:g.257507G>A
GRCh37.p13 chr 19	NC_000019.9:g.257507G>A

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	G=	A
GRCh38.p14 chr 19	NC_000019.10:g.257507=	NC_000019.10:g.257507G>A
GRCh37.p13 chr 19	NC_000019.9:g.257507=	NC_000019.9:g.257507G>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#.

62 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12450158	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss14391870	Dec 05, 2003 (119)
3	BCM_SSAHASNP	ss14691193	Dec 05, 2003 (119)
4	HGSV	ss77569508	Dec 07, 2007 (129)
5	HGSV	ss79038864	Dec 07, 2007 (129)
6	HGSV	ss84059237	Dec 15, 2007 (130)
7	1000GENOMES	ss110962942	Jan 25, 2009 (130)
8	ILLUMINA-UK	ss117613098	Feb 14, 2009 (130)
9	COMPLETE_GENOMICS	ss168827397	Jul 04, 2010 (132)
10	BUSHMAN	ss203566728	Jul 04, 2010 (132)
11	1000GENOMES	ss211926145	Jul 14, 2010 (132)
12	1000GENOMES	ss228001323	Jul 14, 2010 (132)
13	1000GENOMES	ss237572884	Jul 15, 2010 (132)
14	1000GENOMES	ss243800874	Jul 15, 2010 (132)
15	BL	ss255419736	May 09, 2011 (134)
16	GMI	ss283092198	May 04, 2012 (137)
17	GMI	ss287331743	Apr 25, 2013 (138)
18	PJP	ss292171246	May 09, 2011 (134)
19	SSMP	ss661648842	Apr 25, 2013 (138)
20	EVA-GONL	ss993995700	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1081702589	Aug 21, 2014 (142)
22	1000GENOMES	ss1362000565	Aug 21, 2014 (142)
23	DDI	ss1428306267	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1578519168	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1637405236	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1680399269	Apr 01, 2015 (144)
27	EVA_DECODE	ss1698059269	Apr 01, 2015 (144)
28	WEILL_CORNELL_DGM	ss1937469587	Feb 12, 2016 (147)
29	GENOMED	ss1968590699	Jul 19, 2016 (147)
30	JJLAB	ss2029511277	Sep 14, 2016 (149)
31	USC_VALOUEV	ss2158020210	Dec 20, 2016 (150)
32	GRF	ss2702623923	Nov 08, 2017 (151)
33	GNOMAD	ss2959412537	Nov 08, 2017 (151)
34	SWEGEN	ss3016931958	Nov 08, 2017 (151)
35	BIOINF_KMB_FNS_UNIBA	ss3028588271	Nov 08, 2017 (151)
36	CSHL	ss3352151301	Nov 08, 2017 (151)
37	URBANLAB	ss3650849058	Oct 12, 2018 (152)
38	EVA_DECODE	ss3702151219	Jul 13, 2019 (153)
39	ACPOP	ss3742772481	Jul 13, 2019 (153)
40	EVA	ss3755703564	Jul 13, 2019 (153)
41	PACBIO	ss3788442863	Jul 13, 2019 (153)
42	PACBIO	ss3793366396	Jul 13, 2019 (153)
43	PACBIO	ss3798252975	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3820957724	Jul 13, 2019 (153)
45	EVA	ss3835302404	Apr 27, 2020 (154)
46	EVA	ss3841274049	Apr 27, 2020 (154)
47	EVA	ss3846777709	Apr 27, 2020 (154)
48	SGDP_PRJ	ss3887550989	Apr 27, 2020 (154)
49	KRGDB	ss3937466324	Apr 27, 2020 (154)
50	KOGIC	ss3980611401	Apr 27, 2020 (154)
51	TOPMED	ss5065094653	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5226273624	Apr 26, 2021 (155)
53	1000G_HIGH_COVERAGE	ss5306152375	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5498836568	Oct 16, 2022 (156)
55	EVA	ss5512026747	Oct 16, 2022 (156)
56	SANFORD_IMAGENETICS	ss5661794072	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5784383379	Oct 16, 2022 (156)
58	YY_MCH	ss5817322631	Oct 16, 2022 (156)
59	EVA	ss5840122583	Oct 16, 2022 (156)
60	EVA	ss5852168455	Oct 16, 2022 (156)
61	EVA	ss5926949407	Oct 16, 2022 (156)
62	EVA	ss5953228540	Oct 16, 2022 (156)
63	1000Genomes	NC_000019.9 - 257507	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 257507	Oct 12, 2018 (152)
65	The Danish reference pan genome	NC_000019.9 - 257507	Apr 27, 2020 (154)
66	gnomAD - Genomes	NC_000019.10 - 257507	Apr 26, 2021 (155)
67	Genome of the Netherlands Release 5	NC_000019.9 - 257507	Apr 27, 2020 (154)
68	KOREAN population from KRGDB	NC_000019.9 - 257507	Apr 27, 2020 (154)
69	Korean Genome Project	NC_000019.10 - 257507	Apr 27, 2020 (154)
70	Northern Sweden	NC_000019.9 - 257507	Jul 13, 2019 (153)
71	Qatari	NC_000019.9 - 257507	Apr 27, 2020 (154)
72	SGDP_PRJ	NC_000019.9 - 257507	Apr 27, 2020 (154)
73	Siberian	NC_000019.9 - 257507	Apr 27, 2020 (154)
74	8.3KJPN	NC_000019.9 - 257507	Apr 26, 2021 (155)
75	14KJPN	NC_000019.10 - 257507	Oct 16, 2022 (156)
76	TopMed	NC_000019.10 - 257507	Apr 26, 2021 (155)
77	UK 10K study - Twins	NC_000019.9 - 257507	Oct 12, 2018 (152)
78	ALFA	NC_000019.10 - 257507	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)
rs59953114	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77569508, ss79038864, ss84059237, ss110962942, ss117613098, ss168827397, ss203566728, ss211926145, ss255419736, ss283092198, ss287331743, ss292171246, ss1698059269	NC_000019.8:208506:G:A	NC_000019.10:257506:G:A	(self)
75364786, 41781283, 4706557, 18616215, 44643718, 16057346, 19511509, 39567969, 10536564, 84242931, 41781283, ss228001323, ss237572884, ss243800874, ss661648842, ss993995700, ss1081702589, ss1362000565, ss1428306267, ss1578519168, ss1637405236, ss1680399269, ss1937469587, ss1968590699, ss2029511277, ss2158020210, ss2702623923, ss2959412537, ss3016931958, ss3352151301, ss3742772481, ss3755703564, ss3788442863, ss3793366396, ss3798252975, ss3835302404, ss3841274049, ss3887550989, ss3937466324, ss5226273624, ss5512026747, ss5661794072, ss5840122583, ss5953228540	NC_000019.9:257506:G:A	NC_000019.10:257506:G:A	(self)
531474287, 36989402, 118220483, 280640317, 7196421439, ss3028588271, ss3650849058, ss3702151219, ss3820957724, ss3846777709, ss3980611401, ss5065094653, ss5306152375, ss5498836568, ss5784383379, ss5817322631, ss5852168455, ss5926949407	NC_000019.10:257506:G:A	NC_000019.10:257506:G:A	(self)
ss12450158	NT_011255.13:197506:G:A	NC_000019.10:257506:G:A	(self)
ss14391870, ss14691193	NT_011255.14:197506:G:A	NC_000019.10:257506:G:A	(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 rs8100217

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

rs8100217