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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.

rs2456761

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60770784 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.366890 (97112/264690, TOPMED)
A=0.355011 (49610/139742, GnomAD)
A=0.35601 (30565/85854, ALFA) (+ 16 more)
A=0.48902 (8196/16760, 8.3KJPN)
A=0.3950 (1978/5008, 1000G)
A=0.3658 (1639/4480, Estonian)
A=0.3635 (1401/3854, ALSPAC)
A=0.3830 (1420/3708, TWINSUK)
C=0.4307 (1262/2930, KOREAN)
A=0.4107 (856/2084, HGDP_Stanford)
A=0.3810 (720/1890, HapMap)
A=0.394 (393/998, GoNL)
A=0.408 (245/600, NorthernSweden)
C=0.359 (132/368, SGDP_PRJ)
A=0.398 (86/216, Qatari)
C=0.335 (71/212, Vietnamese)
A=0.47 (34/72, Ancient Sardinia)
C=0.47 (19/40, GENOME_DK)
C=0.37 (11/30, 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 10 NC_000010.11:g.60770784C>A
GRCh38.p13 chr 10 NC_000010.11:g.60770784C>G
GRCh38.p13 chr 10 NC_000010.11:g.60770784C>T
GRCh37.p13 chr 10 NC_000010.10:g.62530542C>A
GRCh37.p13 chr 10 NC_000010.10:g.62530542C>G
GRCh37.p13 chr 10 NC_000010.10:g.62530542C>T
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 (New)
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 85854 C=0.64399 A=0.35601
European Sub 69296 C=0.63999 A=0.36001
African Sub 7360 C=0.6865 A=0.3135
African Others Sub 264 C=0.640 A=0.360
African American Sub 7096 C=0.6883 A=0.3117
Asian Sub 204 C=0.422 A=0.578
East Asian Sub 162 C=0.426 A=0.574
Other Asian Sub 42 C=0.40 A=0.60
Latin American 1 Sub 268 C=0.638 A=0.362
Latin American 2 Sub 1316 C=0.5410 A=0.4590
South Asian Sub 4972 C=0.6754 A=0.3246
Other Sub 2438 C=0.6399 A=0.3601


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 C=0.633110 A=0.366890
gnomAD - Genomes Global Study-wide 139742 C=0.644989 A=0.355011
gnomAD - Genomes European Sub 75732 C=0.63878 A=0.36122
gnomAD - Genomes African Sub 41834 C=0.68451 A=0.31549
gnomAD - Genomes American Sub 13592 C=0.59675 A=0.40325
gnomAD - Genomes Ashkenazi Jewish Sub 3316 C=0.7382 A=0.2618
gnomAD - Genomes East Asian Sub 3118 C=0.3868 A=0.6132
gnomAD - Genomes Other Sub 2150 C=0.6302 A=0.3698
8.3KJPN JAPANESE Study-wide 16760 C=0.51098 A=0.48902
1000Genomes Global Study-wide 5008 C=0.6050 A=0.3950
1000Genomes African Sub 1322 C=0.7126 A=0.2874
1000Genomes East Asian Sub 1008 C=0.4048 A=0.5952
1000Genomes Europe Sub 1006 C=0.6600 A=0.3400
1000Genomes South Asian Sub 978 C=0.649 A=0.351
1000Genomes American Sub 694 C=0.549 A=0.451
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6342 A=0.3658
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6365 A=0.3635
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6170 A=0.3830
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4307 A=0.5693, G=0.0000, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.5893 A=0.4107
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.436 A=0.564
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.657 A=0.343
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.649 A=0.351
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.650 A=0.350
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.690 A=0.310
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.421 A=0.579
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.81 A=0.19
HapMap Global Study-wide 1890 C=0.6190 A=0.3810
HapMap American Sub 770 C=0.597 A=0.403
HapMap African Sub 690 C=0.677 A=0.323
HapMap Asian Sub 254 C=0.488 A=0.512
HapMap Europe Sub 176 C=0.676 A=0.324
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.606 A=0.394
Northern Sweden ACPOP Study-wide 600 C=0.592 A=0.408
SGDP_PRJ Global Study-wide 368 C=0.359 A=0.641
Qatari Global Study-wide 216 C=0.602 A=0.398
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.335 A=0.665
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 C=0.53 A=0.47
The Danish reference pan genome Danish Study-wide 40 C=0.47 A=0.53
Siberian Global Study-wide 30 C=0.37 A=0.63
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 C= A G T
GRCh38.p13 chr 10 NC_000010.11:g.60770784= NC_000010.11:g.60770784C>A NC_000010.11:g.60770784C>G NC_000010.11:g.60770784C>T
GRCh37.p13 chr 10 NC_000010.10:g.62530542= NC_000010.10:g.62530542C>A NC_000010.10:g.62530542C>G NC_000010.10:g.62530542C>T
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#.

94 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3443661 Sep 28, 2001 (100)
2 SC_SNP ss12953988 Dec 05, 2003 (119)
3 SC_SNP ss16048447 Feb 27, 2004 (120)
4 PERLEGEN ss24515377 Sep 20, 2004 (123)
5 ABI ss38549008 Mar 15, 2006 (126)
6 ILLUMINA ss66645626 Nov 29, 2006 (127)
7 ILLUMINA ss67255541 Nov 29, 2006 (127)
8 ILLUMINA ss67653850 Nov 29, 2006 (127)
9 ILLUMINA ss70733891 May 23, 2008 (130)
10 ILLUMINA ss71303772 May 16, 2007 (127)
11 ILLUMINA ss75494492 Dec 06, 2007 (129)
12 ILLUMINA ss79135864 Dec 14, 2007 (130)
13 HGSV ss83115077 Dec 14, 2007 (130)
14 KRIBB_YJKIM ss84050932 Dec 14, 2007 (130)
15 HUMANGENOME_JCVI ss97654617 Feb 03, 2009 (130)
16 BGI ss102883651 Dec 01, 2009 (131)
17 1000GENOMES ss109490982 Jan 24, 2009 (130)
18 1000GENOMES ss113347824 Jan 25, 2009 (130)
19 ILLUMINA-UK ss119190198 Feb 15, 2009 (130)
20 ILLUMINA ss122040152 Dec 01, 2009 (131)
21 ENSEMBL ss142841277 Dec 01, 2009 (131)
22 ILLUMINA ss153913694 Dec 01, 2009 (131)
23 GMI ss155112415 Dec 01, 2009 (131)
24 ILLUMINA ss159391479 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss168447809 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss170176115 Jul 04, 2010 (132)
27 ILLUMINA ss171265944 Jul 04, 2010 (132)
28 ILLUMINA ss173354495 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss174575026 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss207115945 Jul 04, 2010 (132)
31 1000GENOMES ss224758368 Jul 14, 2010 (132)
32 1000GENOMES ss235199356 Jul 15, 2010 (132)
33 1000GENOMES ss241900586 Jul 15, 2010 (132)
34 GMI ss280640480 May 04, 2012 (137)
35 PJP ss290850708 May 09, 2011 (134)
36 ILLUMINA ss480700627 May 04, 2012 (137)
37 ILLUMINA ss482624042 May 04, 2012 (137)
38 ILLUMINA ss533893458 Sep 08, 2015 (146)
39 TISHKOFF ss561993059 Apr 25, 2013 (138)
40 SSMP ss656817912 Apr 25, 2013 (138)
41 ILLUMINA ss779222335 Sep 08, 2015 (146)
42 ILLUMINA ss781296367 Sep 08, 2015 (146)
43 ILLUMINA ss825466382 Apr 01, 2015 (144)
44 ILLUMINA ss832903227 Jul 13, 2019 (153)
45 ILLUMINA ss834688312 Sep 08, 2015 (146)
46 EVA-GONL ss987549855 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1077032326 Aug 21, 2014 (142)
48 1000GENOMES ss1337667870 Aug 21, 2014 (142)
49 DDI ss1426339601 Apr 01, 2015 (144)
50 EVA_GENOME_DK ss1575154304 Apr 01, 2015 (144)
51 EVA_DECODE ss1597216305 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1624686915 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1667680948 Apr 01, 2015 (144)
54 EVA_SVP ss1713183899 Apr 01, 2015 (144)
55 HAMMER_LAB ss1806416007 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1930913792 Feb 12, 2016 (147)
57 GENOMED ss1967142997 Jul 19, 2016 (147)
58 JJLAB ss2026180149 Sep 14, 2016 (149)
59 USC_VALOUEV ss2154453295 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2175217636 Dec 20, 2016 (150)
61 TOPMED ss2338249997 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2627560450 Nov 08, 2017 (151)
63 ILLUMINA ss2632717865 Nov 08, 2017 (151)
64 GRF ss2698697418 Nov 08, 2017 (151)
65 GNOMAD ss2889430376 Nov 08, 2017 (151)
66 SWEGEN ss3006572928 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3026881244 Nov 08, 2017 (151)
68 TOPMED ss3121336621 Nov 08, 2017 (151)
69 CSHL ss3349150342 Nov 08, 2017 (151)
70 ILLUMINA ss3626458008 Oct 12, 2018 (152)
71 ILLUMINA ss3630743303 Oct 12, 2018 (152)
72 ILLUMINA ss3637852959 Oct 12, 2018 (152)
73 ILLUMINA ss3638942539 Oct 12, 2018 (152)
74 ILLUMINA ss3639470975 Oct 12, 2018 (152)
75 ILLUMINA ss3642856269 Oct 12, 2018 (152)
76 URBANLAB ss3649385541 Oct 12, 2018 (152)
77 EGCUT_WGS ss3673985387 Jul 13, 2019 (153)
78 EVA_DECODE ss3689992715 Jul 13, 2019 (153)
79 ACPOP ss3737373084 Jul 13, 2019 (153)
80 EVA ss3748171877 Jul 13, 2019 (153)
81 PACBIO ss3786689022 Jul 13, 2019 (153)
82 PACBIO ss3791867521 Jul 13, 2019 (153)
83 PACBIO ss3796749539 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3813547544 Jul 13, 2019 (153)
85 EVA ss3832155606 Apr 26, 2020 (154)
86 EVA ss3839617308 Apr 26, 2020 (154)
87 EVA ss3845089546 Apr 26, 2020 (154)
88 HGDP ss3847387756 Apr 26, 2020 (154)
89 SGDP_PRJ ss3874329718 Apr 26, 2020 (154)
90 KRGDB ss3922399744 Apr 26, 2020 (154)
91 EVA ss3985478169 Apr 27, 2021 (155)
92 EVA ss4017488390 Apr 27, 2021 (155)
93 TOPMED ss4854405497 Apr 27, 2021 (155)
94 TOMMO_GENOMICS ss5197891400 Apr 27, 2021 (155)
95 1000Genomes NC_000010.10 - 62530542 Oct 12, 2018 (152)
96 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62530542 Oct 12, 2018 (152)
97 Genetic variation in the Estonian population NC_000010.10 - 62530542 Oct 12, 2018 (152)
98 The Danish reference pan genome NC_000010.10 - 62530542 Apr 26, 2020 (154)
99 gnomAD - Genomes NC_000010.11 - 60770784 Apr 27, 2021 (155)
100 Genome of the Netherlands Release 5 NC_000010.10 - 62530542 Apr 26, 2020 (154)
101 HGDP-CEPH-db Supplement 1 NC_000010.9 - 62200548 Apr 26, 2020 (154)
102 HapMap NC_000010.11 - 60770784 Apr 26, 2020 (154)
103 KOREAN population from KRGDB NC_000010.10 - 62530542 Apr 26, 2020 (154)
104 Northern Sweden NC_000010.10 - 62530542 Jul 13, 2019 (153)
105 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 62530542 Apr 27, 2021 (155)
106 Qatari NC_000010.10 - 62530542 Apr 26, 2020 (154)
107 SGDP_PRJ NC_000010.10 - 62530542 Apr 26, 2020 (154)
108 Siberian NC_000010.10 - 62530542 Apr 26, 2020 (154)
109 8.3KJPN NC_000010.10 - 62530542 Apr 27, 2021 (155)
110 TopMed NC_000010.11 - 60770784 Apr 27, 2021 (155)
111 UK 10K study - Twins NC_000010.10 - 62530542 Oct 12, 2018 (152)
112 A Vietnamese Genetic Variation Database NC_000010.10 - 62530542 Jul 13, 2019 (153)
113 ALFA NC_000010.11 - 60770784 Apr 27, 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)
rs17833646 Oct 08, 2004 (123)
rs56985373 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83115077, ss3638942539, ss3639470975 NC_000010.8:62200547:C:A NC_000010.11:60770783:C:A (self)
65648, ss109490982, ss113347824, ss119190198, ss168447809, ss170176115, ss174575026, ss207115945, ss280640480, ss290850708, ss482624042, ss825466382, ss1597216305, ss1713183899, ss3642856269, ss3847387756 NC_000010.9:62200547:C:A NC_000010.11:60770783:C:A (self)
50064228, 27786195, 19723635, 2181660, 12392265, 29577138, 10657949, 704096, 12955722, 26346698, 6969649, 55860707, 27786195, 6171217, ss224758368, ss235199356, ss241900586, ss480700627, ss533893458, ss561993059, ss656817912, ss779222335, ss781296367, ss832903227, ss834688312, ss987549855, ss1077032326, ss1337667870, ss1426339601, ss1575154304, ss1624686915, ss1667680948, ss1806416007, ss1930913792, ss1967142997, ss2026180149, ss2154453295, ss2338249997, ss2627560450, ss2632717865, ss2698697418, ss2889430376, ss3006572928, ss3349150342, ss3626458008, ss3630743303, ss3637852959, ss3673985387, ss3737373084, ss3748171877, ss3786689022, ss3791867521, ss3796749539, ss3832155606, ss3839617308, ss3874329718, ss3922399744, ss3985478169, ss4017488390, ss5197891400 NC_000010.10:62530541:C:A NC_000010.11:60770783:C:A (self)
353871751, 415705, 43951776, 69951152, 14260348720, ss2175217636, ss3026881244, ss3121336621, ss3649385541, ss3689992715, ss3813547544, ss3845089546, ss4854405497 NC_000010.11:60770783:C:A NC_000010.11:60770783:C:A (self)
ss12953988 NT_008583.15:11081689:C:A NC_000010.11:60770783:C:A (self)
ss16048447 NT_008583.16:11081696:C:A NC_000010.11:60770783:C:A (self)
ss3443661, ss24515377, ss38549008, ss66645626, ss67255541, ss67653850, ss70733891, ss71303772, ss75494492, ss79135864, ss84050932, ss97654617, ss102883651, ss122040152, ss142841277, ss153913694, ss155112415, ss159391479, ss171265944, ss173354495 NT_030059.13:13335005:C:A NC_000010.11:60770783:C:A (self)
29577138, ss3922399744 NC_000010.10:62530541:C:G NC_000010.11:60770783:C:G (self)
29577138, ss3922399744 NC_000010.10:62530541:C:T NC_000010.11:60770783:C:T (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 rs2456761

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