Name: rs2102167
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.

rs2102167

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:6757418 (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>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.343534 (90930/264690, TOPMED)
G=0.341945 (46908/137180, GnomAD)
A=0.41569 (11744/28252, 14KJPN) (+ 17 more)
G=0.33155 (6261/18884, ALFA)
A=0.41733 (6992/16754, 8.3KJPN)
G=0.4166 (2668/6404, 1000G_30x)
G=0.4203 (2105/5008, 1000G)
G=0.3299 (1476/4474, Estonian)
G=0.3142 (1211/3854, ALSPAC)
G=0.3050 (1131/3708, TWINSUK)
A=0.3706 (1085/2928, KOREAN)
A=0.3750 (687/1832, Korea1K)
G=0.326 (325/998, GoNL)
G=0.290 (174/600, NorthernSweden)
A=0.343 (107/312, SGDP_PRJ)
A=0.500 (108/216, Qatari)
G=0.500 (108/216, Qatari)
A=0.284 (59/208, Vietnamese)
G=0.40 (16/40, GENOME_DK)
A=0.26 (10/38, 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	18884	A=0.66845	G=0.33155
European	Sub	14280	A=0.67759	G=0.32241
African	Sub	2946	A=0.6161	G=0.3839
African Others	Sub	114	A=0.658	G=0.342
African American	Sub	2832	A=0.6144	G=0.3856
Asian	Sub	112	A=0.411	G=0.589
East Asian	Sub	86	A=0.34	G=0.66
Other Asian	Sub	26	A=0.65	G=0.35
Latin American 1	Sub	146	A=0.664	G=0.336
Latin American 2	Sub	610	A=0.803	G=0.197
South Asian	Sub	98	A=0.57	G=0.43
Other	Sub	692	A=0.640	G=0.360

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=0.656466	G=0.343534
gnomAD - Genomes	Global	Study-wide	137180	A=0.658055	G=0.341945
gnomAD - Genomes	European	Sub	74618	A=0.68221	G=0.31779
gnomAD - Genomes	African	Sub	40796	A=0.60535	G=0.39465
gnomAD - Genomes	American	Sub	13260	A=0.75324	G=0.24676
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	A=0.6533	G=0.3467
gnomAD - Genomes	East Asian	Sub	3078	A=0.3652	G=0.6348
gnomAD - Genomes	Other	Sub	2114	A=0.6594	G=0.3406
14KJPN	JAPANESE	Study-wide	28252	A=0.41569	G=0.58431
Allele Frequency Aggregator	Total	Global	18884	A=0.66845	G=0.33155
Allele Frequency Aggregator	European	Sub	14280	A=0.67759	G=0.32241
Allele Frequency Aggregator	African	Sub	2946	A=0.6161	G=0.3839
Allele Frequency Aggregator	Other	Sub	692	A=0.640	G=0.360
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.803	G=0.197
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.664	G=0.336
Allele Frequency Aggregator	Asian	Sub	112	A=0.411	G=0.589
Allele Frequency Aggregator	South Asian	Sub	98	A=0.57	G=0.43
8.3KJPN	JAPANESE	Study-wide	16754	A=0.41733	G=0.58267
1000Genomes_30x	Global	Study-wide	6404	A=0.5834	G=0.4166
1000Genomes_30x	African	Sub	1786	A=0.5817	G=0.4183
1000Genomes_30x	Europe	Sub	1266	A=0.7180	G=0.2820
1000Genomes_30x	South Asian	Sub	1202	A=0.4942	G=0.5058
1000Genomes_30x	East Asian	Sub	1170	A=0.3906	G=0.6094
1000Genomes_30x	American	Sub	980	A=0.752	G=0.248
1000Genomes	Global	Study-wide	5008	A=0.5797	G=0.4203
1000Genomes	African	Sub	1322	A=0.5862	G=0.4138
1000Genomes	East Asian	Sub	1008	A=0.3968	G=0.6032
1000Genomes	Europe	Sub	1006	A=0.7157	G=0.2843
1000Genomes	South Asian	Sub	978	A=0.493	G=0.507
1000Genomes	American	Sub	694	A=0.758	G=0.242
Genetic variation in the Estonian population	Estonian	Study-wide	4474	A=0.6701	G=0.3299
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6858	G=0.3142
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6950	G=0.3050
KOREAN population from KRGDB	KOREAN	Study-wide	2928	A=0.3706	G=0.6294, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3750	G=0.6250
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.674	G=0.326
Northern Sweden	ACPOP	Study-wide	600	A=0.710	G=0.290
SGDP_PRJ	Global	Study-wide	312	A=0.343	G=0.657
Qatari	Global	Study-wide	216	A=0.500	G=0.500
A Vietnamese Genetic Variation Database	Global	Study-wide	208	A=0.284	G=0.716
The Danish reference pan genome	Danish	Study-wide	40	A=0.60	G=0.40
Siberian	Global	Study-wide	38	A=0.26	G=0.74

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 1	NC_000001.11:g.6757418A>G
GRCh38.p14 chr 1	NC_000001.11:g.6757418A>T
GRCh37.p13 chr 1	NC_000001.10:g.6817478A>G
GRCh37.p13 chr 1	NC_000001.10:g.6817478A>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=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.6757418=	NC_000001.11:g.6757418A>G	NC_000001.11:g.6757418A>T
GRCh37.p13 chr 1	NC_000001.10:g.6817478=	NC_000001.10:g.6817478A>G	NC_000001.10:g.6817478A>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#.

55 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3020464	Jun 15, 2001 (96)
2	BGI	ss105117404	Dec 01, 2009 (131)
3	COMPLETE_GENOMICS	ss163034363	Jul 04, 2010 (132)
4	COMPLETE_GENOMICS	ss166050185	Jul 04, 2010 (132)
5	BUSHMAN	ss197969216	Jul 04, 2010 (132)
6	BL	ss252896349	May 09, 2011 (134)
7	GMI	ss275701924	May 04, 2012 (137)
8	GMI	ss283996045	Apr 25, 2013 (138)
9	1000GENOMES	ss328393108	May 09, 2011 (134)
10	TISHKOFF	ss553761213	Apr 25, 2013 (138)
11	SSMP	ss647554353	Apr 25, 2013 (138)
12	EVA-GONL	ss974822873	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1067646909	Aug 21, 2014 (142)
14	1000GENOMES	ss1289551790	Aug 21, 2014 (142)
15	DDI	ss1425702490	Apr 01, 2015 (144)
16	EVA_GENOME_DK	ss1573871575	Apr 01, 2015 (144)
17	EVA_DECODE	ss1584181032	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1599480090	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1642474123	Apr 01, 2015 (144)
20	HAMMER_LAB	ss1793840095	Sep 08, 2015 (146)
21	WEILL_CORNELL_DGM	ss1918020429	Feb 12, 2016 (147)
22	GENOMED	ss1966677694	Jul 19, 2016 (147)
23	JJLAB	ss2019526003	Sep 14, 2016 (149)
24	USC_VALOUEV	ss2147519571	Dec 20, 2016 (150)
25	HUMAN_LONGEVITY	ss2159774036	Dec 20, 2016 (150)
26	SYSTEMSBIOZJU	ss2624278733	Nov 08, 2017 (151)
27	GRF	ss2697414999	Nov 08, 2017 (151)
28	GNOMAD	ss2751243164	Nov 08, 2017 (151)
29	SWEGEN	ss2986242803	Nov 08, 2017 (151)
30	BIOINF_KMB_FNS_UNIBA	ss3023527455	Nov 08, 2017 (151)
31	CSHL	ss3343302918	Nov 08, 2017 (151)
32	EGCUT_WGS	ss3654342566	Jul 12, 2019 (153)
33	EVA_DECODE	ss3686097214	Jul 12, 2019 (153)
34	ACPOP	ss3726762391	Jul 12, 2019 (153)
35	EVA	ss3745788933	Jul 12, 2019 (153)
36	KHV_HUMAN_GENOMES	ss3798809500	Jul 12, 2019 (153)
37	EVA	ss3826007767	Apr 25, 2020 (154)
38	EVA	ss3836390883	Apr 25, 2020 (154)
39	EVA	ss3841795202	Apr 25, 2020 (154)
40	SGDP_PRJ	ss3848125133	Apr 25, 2020 (154)
41	KRGDB	ss3892993631	Apr 25, 2020 (154)
42	KOGIC	ss3943748595	Apr 25, 2020 (154)
43	TOPMED	ss4438102910	Apr 25, 2021 (155)
44	TOMMO_GENOMICS	ss5142314820	Apr 25, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5241056436	Oct 17, 2022 (156)
46	EVA	ss5316536562	Oct 17, 2022 (156)
47	EVA	ss5505758182	Oct 17, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5512762359	Oct 17, 2022 (156)
49	SANFORD_IMAGENETICS	ss5624859721	Oct 17, 2022 (156)
50	TOMMO_GENOMICS	ss5666565070	Oct 17, 2022 (156)
51	YY_MCH	ss5800294229	Oct 17, 2022 (156)
52	EVA	ss5831495505	Oct 17, 2022 (156)
53	EVA	ss5848770344	Oct 17, 2022 (156)
54	EVA	ss5906911698	Oct 17, 2022 (156)
55	EVA	ss5936685555	Oct 17, 2022 (156)
56	1000Genomes	NC_000001.10 - 6817478	Oct 11, 2018 (152)
57	1000Genomes_30x	NC_000001.11 - 6757418	Oct 17, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 6817478	Oct 11, 2018 (152)
59	Genetic variation in the Estonian population	NC_000001.10 - 6817478	Oct 11, 2018 (152)
60	The Danish reference pan genome	NC_000001.10 - 6817478	Apr 25, 2020 (154)
61	gnomAD - Genomes	NC_000001.11 - 6757418	Apr 25, 2021 (155)
62	Genome of the Netherlands Release 5	NC_000001.10 - 6817478	Apr 25, 2020 (154)
63	KOREAN population from KRGDB	NC_000001.10 - 6817478	Apr 25, 2020 (154)
64	Korean Genome Project	NC_000001.11 - 6757418	Apr 25, 2020 (154)
65	Northern Sweden	NC_000001.10 - 6817478	Jul 12, 2019 (153)
66	Qatari	NC_000001.10 - 6817478	Apr 25, 2020 (154)
67	SGDP_PRJ	NC_000001.10 - 6817478	Apr 25, 2020 (154)
68	Siberian	NC_000001.10 - 6817478	Apr 25, 2020 (154)
69	8.3KJPN	NC_000001.10 - 6817478	Apr 25, 2021 (155)
70	14KJPN	NC_000001.11 - 6757418	Oct 17, 2022 (156)
71	TopMed	NC_000001.11 - 6757418	Apr 25, 2021 (155)
72	UK 10K study - Twins	NC_000001.10 - 6817478	Oct 11, 2018 (152)
73	A Vietnamese Genetic Variation Database	NC_000001.10 - 6817478	Jul 12, 2019 (153)
74	ALFA	NC_000001.11 - 6757418	Apr 25, 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
ss163034363, ss166050185, ss197969216, ss252896349, ss275701924, ss283996045, ss1584181032	NC_000001.9:6740064:A:G	NC_000001.11:6757417:A:G	(self)
222992, 110942, 80814, 1378052, 48370, 171025, 47256, 62359, 142113, 35925, 284127, 110942, 24373, ss328393108, ss553761213, ss647554353, ss974822873, ss1067646909, ss1289551790, ss1425702490, ss1573871575, ss1599480090, ss1642474123, ss1793840095, ss1918020429, ss1966677694, ss2019526003, ss2147519571, ss2624278733, ss2697414999, ss2751243164, ss2986242803, ss3343302918, ss3654342566, ss3726762391, ss3745788933, ss3826007767, ss3836390883, ss3848125133, ss3892993631, ss5142314820, ss5316536562, ss5505758182, ss5624859721, ss5831495505, ss5936685555	NC_000001.10:6817477:A:G	NC_000001.11:6757417:A:G	(self)
288294, 1537024, 126596, 402174, 1709245, 2954088462, ss2159774036, ss3023527455, ss3686097214, ss3798809500, ss3841795202, ss3943748595, ss4438102910, ss5241056436, ss5512762359, ss5666565070, ss5800294229, ss5848770344, ss5906911698	NC_000001.11:6757417:A:G	NC_000001.11:6757417:A:G	(self)
ss3020464, ss105117404	NT_021937.19:2822209:A:G	NC_000001.11:6757417:A:G	(self)
171025, ss3892993631	NC_000001.10:6817477:A:T	NC_000001.11:6757417: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 rs2102167

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

rs2102167