Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs7896455

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6280204 (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
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.376497 (99655/264690, TOPMED)
G=0.306260 (47741/155884, ALFA)
G=0.366059 (51287/140106, GnomAD) (+ 14 more)
T=0.32619 (5467/16760, 8.3KJPN)
G=0.4906 (2457/5008, 1000G)
G=0.3223 (1444/4480, Estonian)
G=0.2854 (1100/3854, ALSPAC)
G=0.2896 (1074/3708, TWINSUK)
T=0.3171 (929/2930, KOREAN)
G=0.4681 (880/1880, HapMap)
G=0.278 (277/998, GoNL)
G=0.302 (181/600, NorthernSweden)
G=0.308 (130/422, SGDP_PRJ)
G=0.227 (49/216, Qatari)
T=0.315 (68/216, Vietnamese)
G=0.28 (11/40, GENOME_DK)
G=0.28 (11/40, 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.6280204G>C
GRCh38.p13 chr 10 NC_000010.11:g.6280204G>T
GRCh37.p13 chr 10 NC_000010.10:g.6322167G>C
GRCh37.p13 chr 10 NC_000010.10:g.6322167G>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
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 155884 G=0.306260 T=0.693740
European Sub 135320 G=0.289270 T=0.710730
African Sub 7350 G=0.4291 T=0.5709
African Others Sub 254 G=0.441 T=0.559
African American Sub 7096 G=0.4287 T=0.5713
Asian Sub 678 G=0.665 T=0.335
East Asian Sub 514 G=0.673 T=0.327
Other Asian Sub 164 G=0.640 T=0.360
Latin American 1 Sub 838 G=0.376 T=0.624
Latin American 2 Sub 4424 G=0.4736 T=0.5264
South Asian Sub 196 G=0.464 T=0.536
Other Sub 7078 G=0.3519 T=0.6481


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 G=0.376497 T=0.623503
gnomAD - Genomes Global Study-wide 140106 G=0.366059 T=0.633941
gnomAD - Genomes European Sub 75886 G=0.30765 T=0.69235
gnomAD - Genomes African Sub 41980 G=0.43192 T=0.56808
gnomAD - Genomes American Sub 13640 G=0.44003 T=0.55997
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.2548 T=0.7452
gnomAD - Genomes East Asian Sub 3124 G=0.6965 T=0.3035
gnomAD - Genomes Other Sub 2152 G=0.3643 T=0.6357
8.3KJPN JAPANESE Study-wide 16760 G=0.67381 T=0.32619
1000Genomes Global Study-wide 5008 G=0.4906 T=0.5094
1000Genomes African Sub 1322 G=0.4622 T=0.5378
1000Genomes East Asian Sub 1008 G=0.7113 T=0.2887
1000Genomes Europe Sub 1006 G=0.3072 T=0.6928
1000Genomes South Asian Sub 978 G=0.473 T=0.527
1000Genomes American Sub 694 G=0.514 T=0.486
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3223 T=0.6777
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2854 T=0.7146
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2896 T=0.7104
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6829 C=0.0000, T=0.3171
HapMap Global Study-wide 1880 G=0.4681 T=0.5319
HapMap American Sub 766 G=0.475 T=0.525
HapMap African Sub 690 G=0.433 T=0.567
HapMap Asian Sub 250 G=0.680 T=0.320
HapMap Europe Sub 174 G=0.270 T=0.730
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.278 T=0.722
Northern Sweden ACPOP Study-wide 600 G=0.302 T=0.698
SGDP_PRJ Global Study-wide 422 G=0.308 T=0.692
Qatari Global Study-wide 216 G=0.227 T=0.773
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.685 T=0.315
The Danish reference pan genome Danish Study-wide 40 G=0.28 T=0.72
Siberian Global Study-wide 40 G=0.28 T=0.72
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 G= C T
GRCh38.p13 chr 10 NC_000010.11:g.6280204= NC_000010.11:g.6280204G>C NC_000010.11:g.6280204G>T
GRCh37.p13 chr 10 NC_000010.10:g.6322167= NC_000010.10:g.6322167G>C NC_000010.10:g.6322167G>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#.

99 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12065084 Jul 11, 2003 (116)
2 SSAHASNP ss20639835 Apr 05, 2004 (121)
3 ABI ss39712419 Mar 15, 2006 (126)
4 ILLUMINA ss65820648 Oct 13, 2006 (127)
5 AFFY ss66508984 Nov 29, 2006 (127)
6 ILLUMINA ss74872439 Dec 07, 2007 (129)
7 AFFY ss76331745 Dec 07, 2007 (129)
8 HGSV ss77419099 Dec 07, 2007 (129)
9 HGSV ss78908429 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss82511081 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss88080979 Mar 23, 2008 (129)
12 BGI ss102850396 Dec 01, 2009 (131)
13 ILLUMINA-UK ss119003991 Feb 15, 2009 (130)
14 ENSEMBL ss131661898 Dec 01, 2009 (131)
15 ENSEMBL ss131914127 Dec 01, 2009 (131)
16 GMI ss154522883 Dec 01, 2009 (131)
17 ILLUMINA ss160926406 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss167743558 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss170369556 Jul 04, 2010 (132)
20 AFFY ss173289165 Jul 04, 2010 (132)
21 ILLUMINA ss174606626 Jul 04, 2010 (132)
22 BUSHMAN ss201097591 Jul 04, 2010 (132)
23 1000GENOMES ss224544594 Jul 14, 2010 (132)
24 1000GENOMES ss235038117 Jul 15, 2010 (132)
25 1000GENOMES ss241773932 Jul 15, 2010 (132)
26 GMI ss280464798 May 04, 2012 (137)
27 GMI ss286122499 Apr 25, 2013 (138)
28 PJP ss290900187 May 09, 2011 (134)
29 ILLUMINA ss481709666 May 04, 2012 (137)
30 ILLUMINA ss481740878 May 04, 2012 (137)
31 ILLUMINA ss482707992 Sep 08, 2015 (146)
32 ILLUMINA ss485649530 May 04, 2012 (137)
33 ILLUMINA ss537527958 Sep 08, 2015 (146)
34 TISHKOFF ss561745470 Apr 25, 2013 (138)
35 SSMP ss656251697 Apr 25, 2013 (138)
36 ILLUMINA ss778989795 Sep 08, 2015 (146)
37 ILLUMINA ss783270336 Sep 08, 2015 (146)
38 ILLUMINA ss784223556 Sep 08, 2015 (146)
39 ILLUMINA ss832531357 Sep 08, 2015 (146)
40 ILLUMINA ss834452037 Sep 08, 2015 (146)
41 EVA-GONL ss987157399 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1076731780 Aug 21, 2014 (142)
43 1000GENOMES ss1336130460 Aug 21, 2014 (142)
44 DDI ss1426208873 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1574889291 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1623911958 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1666905991 Apr 01, 2015 (144)
48 EVA_SVP ss1713154116 Apr 01, 2015 (144)
49 ILLUMINA ss1751975139 Sep 08, 2015 (146)
50 HAMMER_LAB ss1806238354 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1930478336 Feb 12, 2016 (147)
52 GENOMED ss1967049582 Jul 19, 2016 (147)
53 JJLAB ss2025962307 Sep 14, 2016 (149)
54 USC_VALOUEV ss2154204339 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2172359196 Dec 20, 2016 (150)
56 TOPMED ss2335068257 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2627450065 Nov 08, 2017 (151)
58 ILLUMINA ss2632669826 Nov 08, 2017 (151)
59 GRF ss2698428264 Nov 08, 2017 (151)
60 GNOMAD ss2885106096 Nov 08, 2017 (151)
61 AFFY ss2984904479 Nov 08, 2017 (151)
62 AFFY ss2985550204 Nov 08, 2017 (151)
63 SWEGEN ss3005875759 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3026764669 Nov 08, 2017 (151)
65 TOPMED ss3110666044 Nov 08, 2017 (151)
66 CSHL ss3348941978 Nov 08, 2017 (151)
67 ILLUMINA ss3626378196 Oct 12, 2018 (152)
68 ILLUMINA ss3630697733 Oct 12, 2018 (152)
69 ILLUMINA ss3632937003 Oct 12, 2018 (152)
70 ILLUMINA ss3633633621 Oct 12, 2018 (152)
71 ILLUMINA ss3634388410 Oct 12, 2018 (152)
72 ILLUMINA ss3635326456 Oct 12, 2018 (152)
73 ILLUMINA ss3636068228 Oct 12, 2018 (152)
74 ILLUMINA ss3637077042 Oct 12, 2018 (152)
75 ILLUMINA ss3637831853 Oct 12, 2018 (152)
76 ILLUMINA ss3640095758 Oct 12, 2018 (152)
77 ILLUMINA ss3640996894 Oct 12, 2018 (152)
78 ILLUMINA ss3641291095 Oct 12, 2018 (152)
79 ILLUMINA ss3642836748 Oct 12, 2018 (152)
80 URBANLAB ss3649280490 Oct 12, 2018 (152)
81 ILLUMINA ss3653674143 Oct 12, 2018 (152)
82 EGCUT_WGS ss3673402888 Jul 13, 2019 (153)
83 EVA_DECODE ss3689206724 Jul 13, 2019 (153)
84 ACPOP ss3737027004 Jul 13, 2019 (153)
85 ILLUMINA ss3744689284 Jul 13, 2019 (153)
86 EVA ss3747699791 Jul 13, 2019 (153)
87 ILLUMINA ss3772189997 Jul 13, 2019 (153)
88 PACBIO ss3786570239 Jul 13, 2019 (153)
89 PACBIO ss3791764125 Jul 13, 2019 (153)
90 PACBIO ss3796645905 Jul 13, 2019 (153)
91 KHV_HUMAN_GENOMES ss3813062752 Jul 13, 2019 (153)
92 EVA ss3831947080 Apr 26, 2020 (154)
93 EVA ss3839504385 Apr 26, 2020 (154)
94 EVA ss3844970369 Apr 26, 2020 (154)
95 SGDP_PRJ ss3873453661 Apr 26, 2020 (154)
96 KRGDB ss3921389152 Apr 26, 2020 (154)
97 EVA ss4017468494 Apr 26, 2021 (155)
98 TOPMED ss4841245618 Apr 26, 2021 (155)
99 TOMMO_GENOMICS ss5196097227 Apr 26, 2021 (155)
100 1000Genomes NC_000010.10 - 6322167 Oct 12, 2018 (152)
101 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6322167 Oct 12, 2018 (152)
102 Genetic variation in the Estonian population NC_000010.10 - 6322167 Oct 12, 2018 (152)
103 The Danish reference pan genome NC_000010.10 - 6322167 Apr 26, 2020 (154)
104 gnomAD - Genomes NC_000010.11 - 6280204 Apr 26, 2021 (155)
105 Genome of the Netherlands Release 5 NC_000010.10 - 6322167 Apr 26, 2020 (154)
106 HapMap NC_000010.11 - 6280204 Apr 26, 2020 (154)
107 KOREAN population from KRGDB NC_000010.10 - 6322167 Apr 26, 2020 (154)
108 Northern Sweden NC_000010.10 - 6322167 Jul 13, 2019 (153)
109 Qatari NC_000010.10 - 6322167 Apr 26, 2020 (154)
110 SGDP_PRJ NC_000010.10 - 6322167 Apr 26, 2020 (154)
111 Siberian NC_000010.10 - 6322167 Apr 26, 2020 (154)
112 8.3KJPN NC_000010.10 - 6322167 Apr 26, 2021 (155)
113 TopMed NC_000010.11 - 6280204 Apr 26, 2021 (155)
114 UK 10K study - Twins NC_000010.10 - 6322167 Oct 12, 2018 (152)
115 A Vietnamese Genetic Variation Database NC_000010.10 - 6322167 Jul 13, 2019 (153)
116 ALFA NC_000010.11 - 6280204 Apr 26, 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)
rs56924913 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
28566546, ss3921389152 NC_000010.10:6322166:G:C NC_000010.11:6280203:G:C (self)
ss77419099, ss78908429 NC_000010.8:6362172:G:T NC_000010.11:6280203:G:T (self)
ss66508984, ss76331745, ss88080979, ss119003991, ss167743558, ss170369556, ss173289165, ss201097591, ss280464798, ss286122499, ss290900187, ss481709666, ss1713154116, ss3642836748 NC_000010.9:6362172:G:T NC_000010.11:6280203:G:T (self)
48471791, 26932389, 19141136, 2014494, 12012283, 28566546, 10311869, 12520266, 25470641, 6720693, 54066534, 26932389, 5978631, ss224544594, ss235038117, ss241773932, ss481740878, ss482707992, ss485649530, ss537527958, ss561745470, ss656251697, ss778989795, ss783270336, ss784223556, ss832531357, ss834452037, ss987157399, ss1076731780, ss1336130460, ss1426208873, ss1574889291, ss1623911958, ss1666905991, ss1751975139, ss1806238354, ss1930478336, ss1967049582, ss2025962307, ss2154204339, ss2335068257, ss2627450065, ss2632669826, ss2698428264, ss2885106096, ss2984904479, ss2985550204, ss3005875759, ss3348941978, ss3626378196, ss3630697733, ss3632937003, ss3633633621, ss3634388410, ss3635326456, ss3636068228, ss3637077042, ss3637831853, ss3640095758, ss3640996894, ss3641291095, ss3653674143, ss3673402888, ss3737027004, ss3744689284, ss3747699791, ss3772189997, ss3786570239, ss3791764125, ss3796645905, ss3831947080, ss3839504385, ss3873453661, ss3921389152, ss4017468494, ss5196097227 NC_000010.10:6322166:G:T NC_000010.11:6280203:G:T (self)
342418052, 330092, 35685463, 56791273, 11769952034, ss2172359196, ss3026764669, ss3110666044, ss3649280490, ss3689206724, ss3813062752, ss3844970369, ss4841245618 NC_000010.11:6280203:G:T NC_000010.11:6280203:G:T (self)
ss39712419, ss65820648, ss74872439, ss82511081, ss102850396, ss131661898, ss131914127, ss154522883, ss160926406, ss174606626 NT_008705.16:6262166:G:T NC_000010.11:6280203:G:T (self)
ss12065084, ss20639835 NT_077569.2:685062:G:T NC_000010.11:6280203:G: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 rs7896455

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