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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.

rs6560851

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:85397 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.011066 (2929/264690, TOPMED)
A=0.010810 (1517/140330, GnomAD)
A=0.00414 (132/31874, ALFA) (+ 12 more)
A=0.00006 (1/16760, 8.3KJPN)
A=0.0094 (47/5008, 1000G)
A=0.0000 (0/3854, ALSPAC)
A=0.0000 (0/3708, TWINSUK)
A=0.0000 (0/2930, KOREAN)
A=0.0005 (1/1832, Korea1K)
A=0.000 (0/600, NorthernSweden)
A=0.000 (0/558, SGDP_PRJ)
A=0.137 (73/534, MGP)
A=0.000 (0/216, Qatari)
A=0.000 (0/214, Vietnamese)
A=0.00 (0/56, 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.85397A>G
GRCh37.p13 chr 10 NC_000010.10:g.131337A>G
IL9RP2 pseudogene NG_009864.2:g.949T>C
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.75397A>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 31874 A=0.00414 G=0.99586
European Sub 23900 A=0.00004 G=0.99996
African Sub 3546 A=0.0347 G=0.9653
African Others Sub 122 A=0.074 G=0.926
African American Sub 3424 A=0.0333 G=0.9667
Asian Sub 422 A=0.000 G=1.000
East Asian Sub 360 A=0.000 G=1.000
Other Asian Sub 62 A=0.00 G=1.00
Latin American 1 Sub 194 A=0.005 G=0.995
Latin American 2 Sub 814 A=0.001 G=0.999
South Asian Sub 132 A=0.000 G=1.000
Other Sub 2866 A=0.0021 G=0.9979


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 A=0.011066 G=0.988934
gnomAD - Genomes Global Study-wide 140330 A=0.010810 G=0.989190
gnomAD - Genomes European Sub 75978 A=0.00007 G=0.99993
gnomAD - Genomes African Sub 42072 A=0.03451 G=0.96549
gnomAD - Genomes American Sub 13668 A=0.00337 G=0.99663
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.0000 G=1.0000
gnomAD - Genomes East Asian Sub 3134 A=0.0000 G=1.0000
gnomAD - Genomes Other Sub 2154 A=0.0065 G=0.9935
8.3KJPN JAPANESE Study-wide 16760 A=0.00006 G=0.99994
1000Genomes Global Study-wide 5008 A=0.0094 G=0.9906
1000Genomes African Sub 1322 A=0.0356 G=0.9644
1000Genomes East Asian Sub 1008 A=0.0000 G=1.0000
1000Genomes Europe Sub 1006 A=0.0000 G=1.0000
1000Genomes South Asian Sub 978 A=0.000 G=1.000
1000Genomes American Sub 694 A=0.000 G=1.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.0000 G=1.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.0000 G=1.0000
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0000 G=1.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0005 G=0.9995
Northern Sweden ACPOP Study-wide 600 A=0.000 G=1.000
SGDP_PRJ Global Study-wide 558 A=0.000 G=1.000
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.137 G=0.863
Qatari Global Study-wide 216 A=0.000 G=1.000
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.000 G=1.000
Siberian Global Study-wide 56 A=0.00 G=1.00
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 A= G
GRCh38.p13 chr 10 NC_000010.11:g.85397= NC_000010.11:g.85397A>G
GRCh37.p13 chr 10 NC_000010.10:g.131337= NC_000010.10:g.131337A>G
IL9RP2 pseudogene NG_009864.2:g.949= NG_009864.2:g.949T>C
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.75397= NW_003571043.1:g.75397A>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#.

69 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10634803 Jul 11, 2003 (116)
2 WI_SSAHASNP ss12108490 Jul 11, 2003 (116)
3 SC_SNP ss12973446 Dec 05, 2003 (119)
4 SC_SNP ss15789870 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss16479463 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19167325 Feb 27, 2004 (120)
7 SSAHASNP ss20664579 Apr 05, 2004 (121)
8 HGSV ss77742641 Dec 06, 2007 (129)
9 BCMHGSC_JDW ss88057420 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss97527215 Feb 05, 2009 (130)
11 BGI ss106648862 Feb 05, 2009 (130)
12 ENSEMBL ss107935992 Feb 05, 2009 (130)
13 1000GENOMES ss109145750 Jan 23, 2009 (130)
14 1000GENOMES ss115221494 Jan 25, 2009 (130)
15 ILLUMINA-UK ss118963240 Feb 15, 2009 (130)
16 ENSEMBL ss138793253 Dec 01, 2009 (131)
17 GMI ss158077371 Dec 01, 2009 (131)
18 ILLUMINA ss160787090 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss167614006 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss170210028 Jul 04, 2010 (132)
21 BUSHMAN ss201023346 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss207314718 Jul 04, 2010 (132)
23 1000GENOMES ss224512372 Jul 14, 2010 (132)
24 1000GENOMES ss235012267 Jul 15, 2010 (132)
25 1000GENOMES ss241753218 Jul 15, 2010 (132)
26 BL ss253971539 May 09, 2011 (134)
27 GMI ss280440383 May 04, 2012 (137)
28 GMI ss286110758 Apr 25, 2013 (138)
29 PJP ss290815793 May 09, 2011 (134)
30 ILLUMINA ss482291217 Sep 11, 2015 (146)
31 TISHKOFF ss561707924 Apr 25, 2013 (138)
32 SSMP ss656208262 Apr 25, 2013 (138)
33 JMKIDD_LAB ss1076687398 Aug 21, 2014 (142)
34 1000GENOMES ss1335912834 Aug 21, 2014 (142)
35 DDI ss1426189099 Apr 09, 2015 (144)
36 EVA_UK10K_ALSPAC ss1623797565 Apr 09, 2015 (144)
37 EVA_UK10K_TWINSUK ss1666791598 Apr 09, 2015 (144)
38 EVA_MGP ss1711245174 Apr 09, 2015 (144)
39 HAMMER_LAB ss1806212551 Sep 11, 2015 (146)
40 WEILL_CORNELL_DGM ss1930414739 Feb 17, 2016 (147)
41 GENOMED ss1967034969 Sep 28, 2016 (149)
42 JJLAB ss2025929561 Sep 28, 2016 (149)
43 USC_VALOUEV ss2154169616 Oct 12, 2018 (152)
44 TOPMED ss2334635202 Oct 12, 2018 (152)
45 SYSTEMSBIOZJU ss2627432621 Oct 12, 2018 (152)
46 GRF ss2698389008 Oct 12, 2018 (152)
47 GNOMAD ss2884519024 Oct 12, 2018 (152)
48 SWEGEN ss3005784391 Oct 12, 2018 (152)
49 BIOINF_KMB_FNS_UNIBA ss3026746707 Nov 08, 2017 (151)
50 TOPMED ss3109331986 Nov 08, 2017 (151)
51 CSHL ss3348911609 Oct 12, 2018 (152)
52 ILLUMINA ss3636064874 Oct 12, 2018 (152)
53 URBANLAB ss3649265493 Oct 12, 2018 (152)
54 EVA_DECODE ss3689095314 Jul 13, 2019 (153)
55 ACPOP ss3736974300 Jul 13, 2019 (153)
56 EVA ss3747627322 Jul 13, 2019 (153)
57 PACBIO ss3786553489 Jul 13, 2019 (153)
58 PACBIO ss3791748144 Jul 13, 2019 (153)
59 PACBIO ss3796629766 Jul 13, 2019 (153)
60 KHV_HUMAN_GENOMES ss3812993309 Jul 13, 2019 (153)
61 EVA ss3831916732 Apr 26, 2020 (154)
62 EVA ss3839487146 Apr 26, 2020 (154)
63 EVA ss3844952614 Apr 26, 2020 (154)
64 SGDP_PRJ ss3873326418 Apr 26, 2020 (154)
65 KRGDB ss3921253434 Apr 26, 2020 (154)
66 KOGIC ss3967022818 Apr 26, 2020 (154)
67 GNOMAD ss4211410289 Apr 26, 2021 (155)
68 TOPMED ss4839523375 Apr 26, 2021 (155)
69 TOMMO_GENOMICS ss5195848023 Apr 26, 2021 (155)
70 1000Genomes NC_000010.10 - 131337 Oct 12, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 131337 Oct 12, 2018 (152)
72 gnomAD - Genomes NC_000010.11 - 85397 Apr 26, 2021 (155)
73 KOREAN population from KRGDB NC_000010.10 - 131337 Apr 26, 2020 (154)
74 Korean Genome Project NC_000010.11 - 85397 Apr 26, 2020 (154)
75 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 131337 Apr 26, 2020 (154)
76 Northern Sweden NC_000010.10 - 131337 Jul 13, 2019 (153)
77 Qatari NC_000010.10 - 131337 Apr 26, 2020 (154)
78 SGDP_PRJ NC_000010.10 - 131337 Apr 26, 2020 (154)
79 Siberian NC_000010.10 - 131337 Apr 26, 2020 (154)
80 8.3KJPN NC_000010.10 - 131337 Apr 26, 2021 (155)
81 TopMed NC_000010.11 - 85397 Apr 26, 2021 (155)
82 UK 10K study - Twins NC_000010.10 - 131337 Oct 12, 2018 (152)
83 A Vietnamese Genetic Variation Database NC_000010.10 - 131337 Jul 13, 2019 (153)
84 ALFA NC_000010.11 - 85397 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
ss77742641 NC_000010.8:121336:A:G NC_000010.11:85396:A:G (self)
ss88057420, ss109145750, ss115221494, ss118963240, ss167614006, ss170210028, ss201023346, ss207314718, ss253971539, ss280440383, ss286110758, ss290815793 NC_000010.9:121336:A:G NC_000010.11:85396:A:G (self)
48246539, 26806342, 28430828, 360934, 10259165, 12456669, 25343398, 6685970, 53817330, 26806342, 5948668, ss224512372, ss235012267, ss241753218, ss482291217, ss561707924, ss656208262, ss1076687398, ss1335912834, ss1426189099, ss1623797565, ss1666791598, ss1711245174, ss1806212551, ss1930414739, ss1967034969, ss2025929561, ss2154169616, ss2334635202, ss2627432621, ss2698389008, ss2884519024, ss3005784391, ss3348911609, ss3636064874, ss3736974300, ss3747627322, ss3786553489, ss3791748144, ss3796629766, ss3831916732, ss3839487146, ss3873326418, ss3921253434, ss5195848023 NC_000010.10:131336:A:G NC_000010.11:85396:A:G (self)
340933468, 23400819, 34602169, 55069030, 9653850677, ss3026746707, ss3109331986, ss3649265493, ss3689095314, ss3812993309, ss3844952614, ss3967022818, ss4211410289, ss4839523375 NC_000010.11:85396:A:G NC_000010.11:85396:A:G (self)
ss97527215, ss106648862, ss107935992, ss138793253, ss158077371, ss160787090 NT_008705.16:71336:A:G NC_000010.11:85396:A:G (self)
ss10634803, ss12108490, ss12973446 NT_024115.14:71336:A:G NC_000010.11:85396:A:G (self)
ss15789870, ss16479463, ss19167325, ss20664579 NT_077567.3:71336:A:G NC_000010.11:85396:A: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 rs6560851

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