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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.

rs7909128

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6280422 (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
C=0.375832 (99479/264690, TOPMED)
G=0.32685 (5478/16760, 8.3KJPN)
C=0.4380 (3740/8538, ALFA) (+ 10 more)
C=0.4882 (2445/5008, 1000G)
C=0.3215 (1436/4466, Estonian)
C=0.2852 (1099/3854, ALSPAC)
C=0.2891 (1072/3708, TWINSUK)
G=0.3177 (931/2930, KOREAN)
C=0.276 (275/998, GoNL)
C=0.302 (181/600, NorthernSweden)
C=0.308 (130/422, SGDP_PRJ)
C=0.222 (48/216, Qatari)
C=0.28 (11/40, 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 8538 C=0.4380 A=0.0000, G=0.5610, T=0.0009
European Sub 7334 C=0.3752 A=0.0000, G=0.6237, T=0.0011
African Sub 672 C=0.881 A=0.000, G=0.119, T=0.000
African Others Sub 28 C=0.93 A=0.00, G=0.07, T=0.00
African American Sub 644 C=0.879 A=0.000, G=0.121, T=0.000
Asian Sub 66 C=0.98 A=0.00, G=0.02, T=0.00
East Asian Sub 56 C=1.00 A=0.00, G=0.00, T=0.00
Other Asian Sub 10 C=0.9 A=0.0, G=0.1, T=0.0
Latin American 1 Sub 24 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 2 Sub 132 C=1.000 A=0.000, G=0.000, T=0.000
South Asian Sub 30 C=0.97 A=0.00, G=0.03, T=0.00
Other Sub 280 C=0.521 A=0.000, G=0.479, T=0.000


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=0.375832 G=0.624168
8.3KJPN JAPANESE Study-wide 16760 C=0.67315 G=0.32685
1000Genomes Global Study-wide 5008 C=0.4882 G=0.5118
1000Genomes African Sub 1322 C=0.4614 G=0.5386
1000Genomes East Asian Sub 1008 C=0.7113 G=0.2887
1000Genomes Europe Sub 1006 C=0.3062 G=0.6938
1000Genomes South Asian Sub 978 C=0.463 G=0.537
1000Genomes American Sub 694 C=0.514 G=0.486
Genetic variation in the Estonian population Estonian Study-wide 4466 C=0.3215 G=0.6785
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2852 G=0.7148
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2891 G=0.7109
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6823 G=0.3177
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.276 G=0.724
Northern Sweden ACPOP Study-wide 600 C=0.302 G=0.698
SGDP_PRJ Global Study-wide 422 C=0.308 G=0.692
Qatari Global Study-wide 216 C=0.222 G=0.778
Siberian Global Study-wide 40 C=0.28 G=0.72
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.6280422C>A
GRCh38.p13 chr 10 NC_000010.11:g.6280422C>G
GRCh38.p13 chr 10 NC_000010.11:g.6280422C>T
GRCh37.p13 chr 10 NC_000010.10:g.6322385C>A
GRCh37.p13 chr 10 NC_000010.10:g.6322385C>G
GRCh37.p13 chr 10 NC_000010.10:g.6322385C>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
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.6280422= NC_000010.11:g.6280422C>A NC_000010.11:g.6280422C>G NC_000010.11:g.6280422C>T
GRCh37.p13 chr 10 NC_000010.10:g.6322385= NC_000010.10:g.6322385C>A NC_000010.10:g.6322385C>G NC_000010.10:g.6322385C>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#.

60 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12089195 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss16474784 Feb 27, 2004 (120)
3 SSAHASNP ss20616117 Apr 05, 2004 (121)
4 BCMHGSC_JDW ss88080983 Mar 23, 2008 (129)
5 HUMANGENOME_JCVI ss97618049 Feb 03, 2009 (130)
6 BGI ss102850398 Dec 01, 2009 (131)
7 ILLUMINA-UK ss119004000 Feb 15, 2009 (130)
8 ENSEMBL ss131661905 Dec 01, 2009 (131)
9 ENSEMBL ss137961339 Dec 01, 2009 (131)
10 GMI ss154522901 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss167743598 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss170369582 Jul 04, 2010 (132)
13 BUSHMAN ss201097600 Jul 04, 2010 (132)
14 1000GENOMES ss224544597 Jul 14, 2010 (132)
15 1000GENOMES ss235038120 Jul 15, 2010 (132)
16 1000GENOMES ss241773934 Jul 15, 2010 (132)
17 BL ss254025907 May 09, 2011 (134)
18 GMI ss280464800 May 04, 2012 (137)
19 GMI ss286122502 Apr 25, 2013 (138)
20 PJP ss290900189 May 09, 2011 (134)
21 TISHKOFF ss561745473 Apr 25, 2013 (138)
22 SSMP ss656251699 Apr 25, 2013 (138)
23 EVA-GONL ss987157403 Aug 21, 2014 (142)
24 1000GENOMES ss1336130469 Aug 21, 2014 (142)
25 DDI ss1426208876 Apr 01, 2015 (144)
26 EVA_DECODE ss1596805384 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1623911961 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1666905994 Apr 01, 2015 (144)
29 HAMMER_LAB ss1806238357 Sep 08, 2015 (146)
30 WEILL_CORNELL_DGM ss1930478341 Feb 12, 2016 (147)
31 GENOMED ss1967049584 Jul 19, 2016 (147)
32 JJLAB ss2025962310 Sep 14, 2016 (149)
33 USC_VALOUEV ss2154204342 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2172359212 Dec 20, 2016 (150)
35 TOPMED ss2335068271 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2627450067 Nov 08, 2017 (151)
37 GRF ss2698428267 Nov 08, 2017 (151)
38 GNOMAD ss2885106118 Nov 08, 2017 (151)
39 SWEGEN ss3005875763 Nov 08, 2017 (151)
40 SWEGEN ss3005875764 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3026764671 Nov 08, 2017 (151)
42 TOPMED ss3110666082 Nov 08, 2017 (151)
43 TOPMED ss3110666083 Nov 08, 2017 (151)
44 CSHL ss3348941981 Nov 08, 2017 (151)
45 URBANLAB ss3649280492 Oct 12, 2018 (152)
46 EGCUT_WGS ss3673402893 Jul 13, 2019 (153)
47 EVA_DECODE ss3689206731 Jul 13, 2019 (153)
48 ACPOP ss3737027006 Jul 13, 2019 (153)
49 EVA ss3747699794 Jul 13, 2019 (153)
50 PACBIO ss3786570241 Jul 13, 2019 (153)
51 PACBIO ss3791764127 Jul 13, 2019 (153)
52 PACBIO ss3796645907 Jul 13, 2019 (153)
53 KHV_HUMAN_GENOMES ss3813062756 Jul 13, 2019 (153)
54 EVA ss3831947083 Apr 26, 2020 (154)
55 EVA ss3839504387 Apr 26, 2020 (154)
56 EVA ss3844970371 Apr 26, 2020 (154)
57 SGDP_PRJ ss3873453665 Apr 26, 2020 (154)
58 KRGDB ss3921389158 Apr 26, 2020 (154)
59 TOPMED ss4841245678 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss5196097232 Apr 26, 2021 (155)
61 1000Genomes NC_000010.10 - 6322385 Oct 12, 2018 (152)
62 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6322385 Oct 12, 2018 (152)
63 Genetic variation in the Estonian population NC_000010.10 - 6322385 Oct 12, 2018 (152)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 342418093 (NC_000010.11:6280421:C:A 1/140070)
Row 342418094 (NC_000010.11:6280421:C:G 88809/140010)
Row 342418095 (NC_000010.11:6280421:C:T 41/140070)

- Apr 26, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 342418093 (NC_000010.11:6280421:C:A 1/140070)
Row 342418094 (NC_000010.11:6280421:C:G 88809/140010)
Row 342418095 (NC_000010.11:6280421:C:T 41/140070)

- Apr 26, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 342418093 (NC_000010.11:6280421:C:A 1/140070)
Row 342418094 (NC_000010.11:6280421:C:G 88809/140010)
Row 342418095 (NC_000010.11:6280421:C:T 41/140070)

- Apr 26, 2021 (155)
67 Genome of the Netherlands Release 5 NC_000010.10 - 6322385 Apr 26, 2020 (154)
68 KOREAN population from KRGDB NC_000010.10 - 6322385 Apr 26, 2020 (154)
69 Northern Sweden NC_000010.10 - 6322385 Jul 13, 2019 (153)
70 Qatari NC_000010.10 - 6322385 Apr 26, 2020 (154)
71 SGDP_PRJ NC_000010.10 - 6322385 Apr 26, 2020 (154)
72 Siberian NC_000010.10 - 6322385 Apr 26, 2020 (154)
73 8.3KJPN NC_000010.10 - 6322385 Apr 26, 2021 (155)
74 TopMed NC_000010.11 - 6280422 Apr 26, 2021 (155)
75 UK 10K study - Twins NC_000010.10 - 6322385 Oct 12, 2018 (152)
76 ALFA NC_000010.11 - 6280422 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2885106118 NC_000010.10:6322384:C:A NC_000010.11:6280421:C:A (self)
3623790253 NC_000010.11:6280421:C:A NC_000010.11:6280421:C:A
ss88080983, ss119004000, ss167743598, ss170369582, ss201097600, ss254025907, ss280464800, ss286122502, ss290900189, ss1596805384 NC_000010.9:6362390:C:G NC_000010.11:6280421:C:G (self)
48471800, 26932392, 19141141, 12012287, 28566552, 10311871, 12520271, 25470645, 6720696, 54066539, 26932392, ss224544597, ss235038120, ss241773934, ss561745473, ss656251699, ss987157403, ss1336130469, ss1426208876, ss1623911961, ss1666905994, ss1806238357, ss1930478341, ss1967049584, ss2025962310, ss2154204342, ss2335068271, ss2627450067, ss2698428267, ss2885106118, ss3005875763, ss3348941981, ss3673402893, ss3737027006, ss3747699794, ss3786570241, ss3791764127, ss3796645907, ss3831947083, ss3839504387, ss3873453665, ss3921389158, ss5196097232 NC_000010.10:6322384:C:G NC_000010.11:6280421:C:G (self)
35685495, 56791333, 3623790253, ss2172359212, ss3026764671, ss3110666082, ss3649280492, ss3689206731, ss3813062756, ss3844970371, ss4841245678 NC_000010.11:6280421:C:G NC_000010.11:6280421:C:G (self)
ss97618049, ss102850398, ss131661905, ss137961339, ss154522901 NT_008705.16:6262384:C:G NC_000010.11:6280421:C:G (self)
ss12089195, ss16474784, ss20616117 NT_077569.2:685280:C:G NC_000010.11:6280421:C:G (self)
ss2885106118, ss3005875764 NC_000010.10:6322384:C:T NC_000010.11:6280421:C:T (self)
3623790253, ss3110666083 NC_000010.11:6280421:C:T NC_000010.11:6280421: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 rs7909128

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.post629+eb05767