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dbSNP Short Genetic Variations

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.

rs2842910

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:2900856 (GRCh38.p13) 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>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.256621 (67925/264690, TOPMED)
C=0.173442 (32589/187896, ALFA)
C=0.247284 (34602/139928, GnomAD) (+ 17 more)
C=0.33944 (26243/77312, PAGE_STUDY)
C=0.35424 (5937/16760, 8.3KJPN)
C=0.3321 (1663/5008, 1000G)
C=0.2121 (950/4480, Estonian)
C=0.1565 (603/3854, ALSPAC)
C=0.1618 (600/3708, TWINSUK)
C=0.3502 (1026/2930, KOREAN)
C=0.3792 (716/1888, HapMap)
C=0.3624 (664/1832, Korea1K)
C=0.162 (162/998, GoNL)
C=0.327 (248/758, PRJEB37584)
C=0.300 (188/626, Chileans)
C=0.180 (108/600, NorthernSweden)
T=0.334 (115/344, SGDP_PRJ)
C=0.250 (54/216, Qatari)
C=0.23 (9/40, GENOME_DK)
T=0.45 (10/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
Help

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.p13 chr 1 NC_000001.11:g.2900856T>A
GRCh38.p13 chr 1 NC_000001.11:g.2900856T>C
GRCh38.p13 chr 1 NC_000001.11:g.2900856T>G
GRCh37.p13 chr 1 NC_000001.10:g.2817421T>A
GRCh37.p13 chr 1 NC_000001.10:g.2817421T>C
GRCh37.p13 chr 1 NC_000001.10:g.2817421T>G
Help

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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 187896 T=0.826558 C=0.173442, G=0.000000
European Sub 162824 T=0.842664 C=0.157336, G=0.000000
African Sub 7164 T=0.6683 C=0.3317, G=0.0000
African Others Sub 232 T=0.616 C=0.384, G=0.000
African American Sub 6932 T=0.6701 C=0.3299, G=0.0000
Asian Sub 694 T=0.684 C=0.316, G=0.000
East Asian Sub 536 T=0.668 C=0.332, G=0.000
Other Asian Sub 158 T=0.741 C=0.259, G=0.000
Latin American 1 Sub 834 T=0.803 C=0.197, G=0.000
Latin American 2 Sub 8144 T=0.7005 C=0.2995, G=0.0000
South Asian Sub 152 T=0.796 C=0.204, G=0.000
Other Sub 8084 T=0.7845 C=0.2155, G=0.0000


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.743379 C=0.256621
gnomAD - Genomes Global Study-wide 139928 T=0.752716 C=0.247284
gnomAD - Genomes European Sub 75790 T=0.82886 C=0.17114
gnomAD - Genomes African Sub 41894 T=0.61438 C=0.38562
gnomAD - Genomes American Sub 13644 T=0.75286 C=0.24714
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.8160 C=0.1840
gnomAD - Genomes East Asian Sub 3128 T=0.6861 C=0.3139
gnomAD - Genomes Other Sub 2152 T=0.7625 C=0.2375
The PAGE Study Global Study-wide 77312 T=0.66056 C=0.33944
The PAGE Study AfricanAmerican Sub 31938 T=0.61466 C=0.38534
The PAGE Study Mexican Sub 10652 T=0.69865 C=0.30135
The PAGE Study Asian Sub 8188 T=0.6534 C=0.3466
The PAGE Study PuertoRican Sub 7772 T=0.7617 C=0.2383
The PAGE Study NativeHawaiian Sub 4442 T=0.5234 C=0.4766
The PAGE Study Cuban Sub 4130 T=0.7896 C=0.2104
The PAGE Study Dominican Sub 3752 T=0.7305 C=0.2695
The PAGE Study CentralAmerican Sub 2418 T=0.6803 C=0.3197
The PAGE Study SouthAmerican Sub 1948 T=0.6704 C=0.3296
The PAGE Study NativeAmerican Sub 1232 T=0.7370 C=0.2630
The PAGE Study SouthAsian Sub 840 T=0.643 C=0.357
8.3KJPN JAPANESE Study-wide 16760 T=0.64576 C=0.35424
1000Genomes Global Study-wide 5008 T=0.6679 C=0.3321
1000Genomes African Sub 1322 T=0.5582 C=0.4418
1000Genomes East Asian Sub 1008 T=0.6438 C=0.3562
1000Genomes Europe Sub 1006 T=0.8181 C=0.1819
1000Genomes South Asian Sub 978 T=0.646 C=0.354
1000Genomes American Sub 694 T=0.725 C=0.275
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7879 C=0.2121
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8435 C=0.1565
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8382 C=0.1618
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6498 A=0.0000, C=0.3502
HapMap Global Study-wide 1888 T=0.6208 C=0.3792
HapMap American Sub 770 T=0.722 C=0.278
HapMap African Sub 688 T=0.462 C=0.538
HapMap Asian Sub 254 T=0.614 C=0.386
HapMap Europe Sub 176 T=0.807 C=0.193
Korean Genome Project KOREAN Study-wide 1832 T=0.6376 C=0.3624
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.838 C=0.162
CNV burdens in cranial meningiomas Global Study-wide 758 T=0.673 C=0.327
CNV burdens in cranial meningiomas CRM Sub 758 T=0.673 C=0.327
Chileans Chilean Study-wide 626 T=0.700 C=0.300
Northern Sweden ACPOP Study-wide 600 T=0.820 C=0.180
SGDP_PRJ Global Study-wide 344 T=0.334 C=0.666
Qatari Global Study-wide 216 T=0.750 C=0.250
The Danish reference pan genome Danish Study-wide 40 T=0.78 C=0.23
Siberian Global Study-wide 22 T=0.45 C=0.55
Help

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= A C G
GRCh38.p13 chr 1 NC_000001.11:g.2900856= NC_000001.11:g.2900856T>A NC_000001.11:g.2900856T>C NC_000001.11:g.2900856T>G
GRCh37.p13 chr 1 NC_000001.10:g.2817421= NC_000001.10:g.2817421T>A NC_000001.10:g.2817421T>C NC_000001.10:g.2817421T>G
Help

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#.

97 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4025076 Sep 28, 2001 (100)
2 SC_SNP ss12992590 Dec 05, 2003 (119)
3 PERLEGEN ss23840172 Sep 20, 2004 (123)
4 ABI ss41104643 Mar 14, 2006 (126)
5 AFFY ss76632229 Dec 08, 2007 (130)
6 HGSV ss83459309 Dec 14, 2007 (130)
7 HGSV ss85609447 Dec 14, 2007 (130)
8 KRIBB_YJKIM ss104882012 Feb 03, 2009 (130)
9 BGI ss105113966 Dec 01, 2009 (131)
10 1000GENOMES ss109955705 Jan 24, 2009 (130)
11 ILLUMINA-UK ss118446591 Feb 14, 2009 (130)
12 GMI ss154548655 Dec 01, 2009 (131)
13 ILLUMINA ss160587961 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss162995865 Jul 04, 2010 (132)
15 BUSHMAN ss197911178 Jul 04, 2010 (132)
16 1000GENOMES ss218197959 Jul 14, 2010 (132)
17 1000GENOMES ss230400701 Jul 14, 2010 (132)
18 1000GENOMES ss238119852 Jul 15, 2010 (132)
19 GMI ss275688336 May 04, 2012 (137)
20 GMI ss283989948 Apr 25, 2013 (138)
21 ILLUMINA ss480690232 May 04, 2012 (137)
22 ILLUMINA ss480705737 May 04, 2012 (137)
23 ILLUMINA ss481566170 Sep 08, 2015 (146)
24 ILLUMINA ss485139943 May 04, 2012 (137)
25 ILLUMINA ss537136841 Sep 08, 2015 (146)
26 TISHKOFF ss553726457 Apr 25, 2013 (138)
27 SSMP ss647530042 Apr 25, 2013 (138)
28 ILLUMINA ss778509181 Aug 21, 2014 (142)
29 ILLUMINA ss783016259 Aug 21, 2014 (142)
30 ILLUMINA ss783976370 Aug 21, 2014 (142)
31 ILLUMINA ss832273710 Apr 01, 2015 (144)
32 ILLUMINA ss833965404 Aug 21, 2014 (142)
33 EVA-GONL ss974786932 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1067621544 Aug 21, 2014 (142)
35 1000GENOMES ss1289416391 Aug 21, 2014 (142)
36 EVA_GENOME_DK ss1573856973 Apr 01, 2015 (144)
37 EVA_DECODE ss1584146452 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1599409749 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1642403782 Apr 01, 2015 (144)
40 EVA_SVP ss1712306232 Apr 01, 2015 (144)
41 ILLUMINA ss1751913942 Sep 08, 2015 (146)
42 HAMMER_LAB ss1793755417 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1917981792 Feb 12, 2016 (147)
44 ILLUMINA ss1945982492 Feb 12, 2016 (147)
45 ILLUMINA ss1958233420 Feb 12, 2016 (147)
46 GENOMED ss1966669804 Jul 19, 2016 (147)
47 JJLAB ss2019507154 Sep 14, 2016 (149)
48 USC_VALOUEV ss2147497002 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2159502614 Dec 20, 2016 (150)
50 TOPMED ss2321658347 Dec 20, 2016 (150)
51 TOPMED ss2321658348 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2624269399 Nov 08, 2017 (151)
53 ILLUMINA ss2632467359 Nov 08, 2017 (151)
54 GRF ss2697390569 Nov 08, 2017 (151)
55 ILLUMINA ss2710663866 Nov 08, 2017 (151)
56 GNOMAD ss2750878380 Nov 08, 2017 (151)
57 AFFY ss2984842217 Nov 08, 2017 (151)
58 AFFY ss2985495537 Nov 08, 2017 (151)
59 SWEGEN ss2986187412 Nov 08, 2017 (151)
60 ILLUMINA ss3021046345 Nov 08, 2017 (151)
61 BIOINF_KMB_FNS_UNIBA ss3023517347 Nov 08, 2017 (151)
62 TOPMED ss3066921493 Nov 08, 2017 (151)
63 TOPMED ss3066921494 Nov 08, 2017 (151)
64 CSHL ss3343284376 Nov 08, 2017 (151)
65 ILLUMINA ss3625523718 Oct 11, 2018 (152)
66 ILLUMINA ss3626009910 Oct 11, 2018 (152)
67 ILLUMINA ss3630506944 Oct 11, 2018 (152)
68 ILLUMINA ss3632878317 Oct 11, 2018 (152)
69 ILLUMINA ss3633571866 Oct 11, 2018 (152)
70 ILLUMINA ss3634302989 Oct 11, 2018 (152)
71 ILLUMINA ss3635266054 Oct 11, 2018 (152)
72 ILLUMINA ss3635979345 Oct 11, 2018 (152)
73 ILLUMINA ss3637016402 Oct 11, 2018 (152)
74 ILLUMINA ss3640010354 Oct 11, 2018 (152)
75 ILLUMINA ss3640973459 Oct 11, 2018 (152)
76 ILLUMINA ss3641267272 Oct 11, 2018 (152)
77 ILLUMINA ss3644478345 Oct 11, 2018 (152)
78 ILLUMINA ss3651368937 Oct 11, 2018 (152)
79 ILLUMINA ss3653616000 Oct 11, 2018 (152)
80 EGCUT_WGS ss3654288369 Jul 12, 2019 (153)
81 EVA_DECODE ss3686030021 Jul 12, 2019 (153)
82 ILLUMINA ss3724990016 Jul 12, 2019 (153)
83 ACPOP ss3726732090 Jul 12, 2019 (153)
84 ILLUMINA ss3744040928 Jul 12, 2019 (153)
85 ILLUMINA ss3744603915 Jul 12, 2019 (153)
86 EVA ss3745743542 Jul 12, 2019 (153)
87 PAGE_CC ss3770780015 Jul 12, 2019 (153)
88 ILLUMINA ss3772105644 Jul 12, 2019 (153)
89 KHV_HUMAN_GENOMES ss3798766040 Jul 12, 2019 (153)
90 EVA ss3825989606 Apr 25, 2020 (154)
91 SGDP_PRJ ss3848049005 Apr 25, 2020 (154)
92 KRGDB ss3892908437 Apr 25, 2020 (154)
93 KOGIC ss3943672326 Apr 25, 2020 (154)
94 EVA ss3984450980 Apr 25, 2021 (155)
95 TOPMED ss4437037534 Apr 25, 2021 (155)
96 TOMMO_GENOMICS ss5142161231 Apr 25, 2021 (155)
97 EVA ss5237258563 Apr 25, 2021 (155)
98 1000Genomes NC_000001.10 - 2817421 Oct 11, 2018 (152)
99 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 2817421 Oct 11, 2018 (152)
100 Chileans NC_000001.10 - 2817421 Apr 25, 2020 (154)
101 Genetic variation in the Estonian population NC_000001.10 - 2817421 Oct 11, 2018 (152)
102 The Danish reference pan genome NC_000001.10 - 2817421 Apr 25, 2020 (154)
103 gnomAD - Genomes NC_000001.11 - 2900856 Apr 25, 2021 (155)
104 Genome of the Netherlands Release 5 NC_000001.10 - 2817421 Apr 25, 2020 (154)
105 HapMap NC_000001.11 - 2900856 Apr 25, 2020 (154)
106 KOREAN population from KRGDB NC_000001.10 - 2817421 Apr 25, 2020 (154)
107 Korean Genome Project NC_000001.11 - 2900856 Apr 25, 2020 (154)
108 Northern Sweden NC_000001.10 - 2817421 Jul 12, 2019 (153)
109 The PAGE Study NC_000001.11 - 2900856 Jul 12, 2019 (153)
110 CNV burdens in cranial meningiomas NC_000001.10 - 2817421 Apr 25, 2021 (155)
111 Qatari NC_000001.10 - 2817421 Apr 25, 2020 (154)
112 SGDP_PRJ NC_000001.10 - 2817421 Apr 25, 2020 (154)
113 Siberian NC_000001.10 - 2817421 Apr 25, 2020 (154)
114 8.3KJPN NC_000001.10 - 2817421 Apr 25, 2021 (155)
115 TopMed NC_000001.11 - 2900856 Apr 25, 2021 (155)
116 UK 10K study - Twins NC_000001.10 - 2817421 Oct 11, 2018 (152)
117 ALFA NC_000001.11 - 2900856 Apr 25, 2021 (155)
Help

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)
rs56483168 May 23, 2008 (130)
rs56792216 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
85831, ss3892908437 NC_000001.10:2817420:T:A NC_000001.11:2900855:T:A (self)
ss83459309, ss85609447 NC_000001.8:2840577:T:C NC_000001.11:2900855:T:C (self)
ss76632229, ss109955705, ss118446591, ss160587961, ss162995865, ss197911178, ss275688336, ss283989948, ss480690232, ss1584146452, ss1712306232 NC_000001.9:2807280:T:C NC_000001.11:2900855:T:C (self)
83411, 34647, 88, 26617, 1364207, 14521, 85831, 16955, 280, 23722, 65985, 13356, 130538, 34647, ss218197959, ss230400701, ss238119852, ss480705737, ss481566170, ss485139943, ss537136841, ss553726457, ss647530042, ss778509181, ss783016259, ss783976370, ss832273710, ss833965404, ss974786932, ss1067621544, ss1289416391, ss1573856973, ss1599409749, ss1642403782, ss1751913942, ss1793755417, ss1917981792, ss1945982492, ss1958233420, ss1966669804, ss2019507154, ss2147497002, ss2321658347, ss2624269399, ss2632467359, ss2697390569, ss2710663866, ss2750878380, ss2984842217, ss2985495537, ss2986187412, ss3021046345, ss3343284376, ss3625523718, ss3626009910, ss3630506944, ss3632878317, ss3633571866, ss3634302989, ss3635266054, ss3635979345, ss3637016402, ss3640010354, ss3640973459, ss3641267272, ss3644478345, ss3651368937, ss3653616000, ss3654288369, ss3726732090, ss3744040928, ss3744603915, ss3745743542, ss3772105644, ss3825989606, ss3848049005, ss3892908437, ss3984450980, ss5142161231, ss5237258563 NC_000001.10:2817420:T:C NC_000001.11:2900855:T:C (self)
634834, 1526, 50327, 1484, 396629, 643869, 2679905727, ss2159502614, ss3023517347, ss3066921493, ss3686030021, ss3724990016, ss3770780015, ss3798766040, ss3943672326, ss4437037534 NC_000001.11:2900855:T:C NC_000001.11:2900855:T:C (self)
ss12992590 NT_004321.15:124195:T:C NC_000001.11:2900855:T:C (self)
ss4025076, ss23840172, ss41104643, ss104882012, ss105113966, ss154548655 NT_004350.19:2296052:T:C NC_000001.11:2900855:T:C (self)
ss2321658348 NC_000001.10:2817420:T:G NC_000001.11:2900855:T:G (self)
2679905727, ss3066921494 NC_000001.11:2900855:T:G NC_000001.11:2900855:T:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs2842910

Help

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.

Software version is: 2.0.1.post596+ae089ad