Name: rs2786468
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.

rs2786468

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:83271872 (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 / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.313544 (82992/264690, TOPMED)
G=0.313674 (43878/139884, GnomAD)
G=0.24683 (6975/28258, 14KJPN) (+ 8 more)
G=0.33067 (5761/17422, ALFA)
G=0.24916 (4176/16760, 8.3KJPN)
G=0.2781 (1781/6404, 1000G_30x)
G=0.2762 (1383/5008, 1000G)
G=0.2276 (667/2930, KOREAN)
G=0.275 (274/998, GoNL)
G=0.199 (103/518, SGDP_PRJ)
G=0.236 (51/216, Qatari)

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	17422	G=0.33067	A=0.00000, C=0.66933
European	Sub	13554	G=0.34005	A=0.00000, C=0.65995
African	Sub	2402	G=0.2648	A=0.0000, C=0.7352
African Others	Sub	92	G=0.26	A=0.00, C=0.74
African American	Sub	2310	G=0.2649	A=0.0000, C=0.7351
Asian	Sub	112	G=0.161	A=0.000, C=0.839
East Asian	Sub	86	G=0.16	A=0.00, C=0.84
Other Asian	Sub	26	G=0.15	A=0.00, C=0.85
Latin American 1	Sub	146	G=0.390	A=0.000, C=0.610
Latin American 2	Sub	610	G=0.418	A=0.000, C=0.582
South Asian	Sub	98	G=0.23	A=0.00, C=0.77
Other	Sub	500	G=0.326	A=0.000, C=0.674

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=0.313544	C=0.686456
gnomAD - Genomes	Global	Study-wide	139884	G=0.313674	C=0.686326
gnomAD - Genomes	European	Sub	75808	G=0.33643	C=0.66357
gnomAD - Genomes	African	Sub	41908	G=0.26048	C=0.73952
gnomAD - Genomes	American	Sub	13594	G=0.36832	C=0.63168
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.3412	C=0.6588
gnomAD - Genomes	East Asian	Sub	3110	G=0.1785	C=0.8215
gnomAD - Genomes	Other	Sub	2146	G=0.3560	C=0.6440
14KJPN	JAPANESE	Study-wide	28258	G=0.24683	C=0.75317
Allele Frequency Aggregator	Total	Global	17422	G=0.33067	A=0.00000, C=0.66933
Allele Frequency Aggregator	European	Sub	13554	G=0.34005	A=0.00000, C=0.65995
Allele Frequency Aggregator	African	Sub	2402	G=0.2648	A=0.0000, C=0.7352
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.418	A=0.000, C=0.582
Allele Frequency Aggregator	Other	Sub	500	G=0.326	A=0.000, C=0.674
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.390	A=0.000, C=0.610
Allele Frequency Aggregator	Asian	Sub	112	G=0.161	A=0.000, C=0.839
Allele Frequency Aggregator	South Asian	Sub	98	G=0.23	A=0.00, C=0.77
8.3KJPN	JAPANESE	Study-wide	16760	G=0.24916	C=0.75084
1000Genomes_30x	Global	Study-wide	6404	G=0.2781	C=0.7219
1000Genomes_30x	African	Sub	1786	G=0.2452	C=0.7548
1000Genomes_30x	Europe	Sub	1266	G=0.3349	C=0.6651
1000Genomes_30x	South Asian	Sub	1202	G=0.2621	C=0.7379
1000Genomes_30x	East Asian	Sub	1170	G=0.1632	C=0.8368
1000Genomes_30x	American	Sub	980	G=0.421	C=0.579
1000Genomes	Global	Study-wide	5008	G=0.2762	C=0.7238
1000Genomes	African	Sub	1322	G=0.2405	C=0.7595
1000Genomes	East Asian	Sub	1008	G=0.1687	C=0.8313
1000Genomes	Europe	Sub	1006	G=0.3410	C=0.6590
1000Genomes	South Asian	Sub	978	G=0.265	C=0.735
1000Genomes	American	Sub	694	G=0.422	C=0.578
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.2276	A=0.0000, C=0.7724
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.275	C=0.725
SGDP_PRJ	Global	Study-wide	518	G=0.199	C=0.801
Qatari	Global	Study-wide	216	G=0.236	C=0.764

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.83271872G>A
GRCh38.p14 chr 1	NC_000001.11:g.83271872G>C
GRCh37.p13 chr 1	NC_000001.10:g.83737555G>A
GRCh37.p13 chr 1	NC_000001.10:g.83737555G>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	G=	A	C
GRCh38.p14 chr 1	NC_000001.11:g.83271872=	NC_000001.11:g.83271872G>A	NC_000001.11:g.83271872G>C
GRCh37.p13 chr 1	NC_000001.10:g.83737555=	NC_000001.10:g.83737555G>A	NC_000001.10:g.83737555G>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#.

50 SubSNP, 11 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3943769	Sep 28, 2001 (100)
2	TSC-CSHL	ss5327931	Oct 08, 2002 (108)
3	WI_SSAHASNP	ss11342989	Jul 11, 2003 (117)
4	WI_SSAHASNP	ss13453568	Dec 05, 2003 (120)
5	CSHL-HAPMAP	ss16385892	Feb 27, 2004 (123)
6	CSHL-HAPMAP	ss17325472	Feb 27, 2004 (123)
7	PERLEGEN	ss23145060	Sep 20, 2004 (126)
8	HGSV	ss86006568	Dec 14, 2007 (144)
9	HGSV	ss86009054	Dec 14, 2007 (144)
10	BCMHGSC_JDW	ss87584962	Mar 23, 2008 (144)
11	BGI	ss106581640	Feb 13, 2009 (144)
12	ENSEMBL	ss138878422	Dec 01, 2009 (144)
13	GMI	ss155266221	Dec 01, 2009 (144)
14	GMI	ss275903612	May 04, 2012 (144)
15	GMI	ss284085338	Apr 25, 2013 (144)
16	1000GENOMES	ss328737866	May 09, 2011 (144)
17	TISHKOFF	ss554362925	Apr 25, 2013 (144)
18	SSMP	ss648177189	Apr 25, 2013 (144)
19	EVA-GONL	ss975366918	Aug 21, 2014 (144)
20	1000GENOMES	ss1291674134	Aug 21, 2014 (144)
21	DDI	ss1425876676	Apr 01, 2015 (144)
22	HAMMER_LAB	ss1794653531	Sep 08, 2015 (146)
23	WEILL_CORNELL_DGM	ss1918570040	Feb 12, 2016 (147)
24	SYSTEMSBIOZJU	ss2624414026	Nov 08, 2017 (151)
25	GRF	ss2697745105	Nov 08, 2017 (151)
26	GNOMAD	ss2757378731	Nov 08, 2017 (151)
27	SWEGEN	ss2987127935	Nov 08, 2017 (151)
28	CSHL	ss3343544510	Nov 08, 2017 (151)
29	URBANLAB	ss3646706206	Oct 11, 2018 (152)
30	EVA	ss3746441739	Jul 12, 2019 (153)
31	PACBIO	ss3783464374	Jul 12, 2019 (153)
32	PACBIO	ss3789114483	Jul 12, 2019 (153)
33	PACBIO	ss3793987272	Jul 12, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3799448012	Jul 12, 2019 (153)
35	EVA	ss3826272008	Apr 25, 2020 (154)
36	EVA	ss3836525133	Apr 25, 2020 (154)
37	EVA	ss3841932379	Apr 25, 2020 (154)
38	SGDP_PRJ	ss3849253587	Apr 25, 2020 (154)
39	KRGDB	ss3894305102	Apr 25, 2020 (154)
40	TOPMED	ss4456739627	Apr 25, 2021 (155)
41	TOMMO_GENOMICS	ss5144818222	Apr 25, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5242945565	Oct 12, 2022 (156)
43	EVA	ss5319981229	Oct 12, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5515589578	Oct 12, 2022 (156)
45	SANFORD_IMAGENETICS	ss5625919848	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5669836525	Oct 12, 2022 (156)
47	YY_MCH	ss5800766369	Oct 12, 2022 (156)
48	EVA	ss5832220440	Oct 12, 2022 (156)
49	EVA	ss5909040996	Oct 12, 2022 (156)
50	EVA	ss5937767345	Oct 12, 2022 (156)
51	1000Genomes	NC_000001.10 - 83737555	Oct 11, 2018 (152)
52	1000Genomes_30x	NC_000001.11 - 83271872	Oct 12, 2022 (156)
53	gnomAD - Genomes	NC_000001.11 - 83271872	Apr 25, 2021 (155)
54	Genome of the Netherlands Release 5	NC_000001.10 - 83737555	Apr 25, 2020 (154)
55	KOREAN population from KRGDB	NC_000001.10 - 83737555	Apr 25, 2020 (154)
56	Qatari	NC_000001.10 - 83737555	Apr 25, 2020 (154)
57	SGDP_PRJ	NC_000001.10 - 83737555	Apr 25, 2020 (154)
58	8.3KJPN	NC_000001.10 - 83737555	Apr 25, 2021 (155)
59	14KJPN	NC_000001.11 - 83271872	Oct 12, 2022 (156)
60	TopMed	NC_000001.11 - 83271872	Apr 25, 2021 (155)
61	ALFA	NC_000001.11 - 83271872	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).

Associated ID	History Updated (Build)
rs7512873	Aug 27, 2003 (117)
rs9659015	Feb 27, 2004 (120)
rs11163702	Sep 24, 2004 (123)
rs17101581	Mar 11, 2006 (126)
rs58117351	Apr 01, 2015 (144)
rs61791677	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1482496, ss3894305102	NC_000001.10:83737554:G:A	NC_000001.11:83271871:G:A	(self)
12346007200	NC_000001.11:83271871:G:A	NC_000001.11:83271871:G:A	(self)
ss86006568, ss86009054	NC_000001.8:83449575:G:C	NC_000001.11:83271871:G:C	(self)
ss87584962, ss275903612, ss284085338	NC_000001.9:83510142:G:C	NC_000001.11:83271871:G:C	(self)
2421527, 573804, 1482496, 611970, 1270567, 2787529, ss328737866, ss554362925, ss648177189, ss975366918, ss1291674134, ss1425876676, ss1794653531, ss1918570040, ss2624414026, ss2697745105, ss2757378731, ss2987127935, ss3343544510, ss3746441739, ss3783464374, ss3789114483, ss3793987272, ss3826272008, ss3836525133, ss3849253587, ss3894305102, ss5144818222, ss5319981229, ss5625919848, ss5832220440, ss5937767345	NC_000001.10:83737554:G:C	NC_000001.11:83271871:G:C	(self)
3115513, 17092226, 3673629, 20345962, 12346007200, ss3646706206, ss3799448012, ss3841932379, ss4456739627, ss5242945565, ss5515589578, ss5669836525, ss5800766369, ss5909040996	NC_000001.11:83271871:G:C	NC_000001.11:83271871:G:C	(self)
ss11342989	NT_026943.12:74195:G:C	NC_000001.11:83271871:G:C	(self)
ss13453568, ss16385892, ss17325472	NT_026943.13:8557728:G:C	NC_000001.11:83271871:G:C	(self)
ss3943769, ss5327931, ss23145060, ss106581640, ss138878422, ss155266221	NT_032977.9:53709472:G:C	NC_000001.11:83271871:G: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 rs2786468

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

rs2786468