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dbSNP Short Genetic Variations

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.

rs2247549

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr10:69786817 (GRCh38.p12) 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=0.11801 (14818/125568, TOPMED)
A=0.1154 (3567/30912, GnomAD)
A=0.170 (850/5008, 1000G) (+ 3 more)
A=0.076 (341/4480, Estonian)
A=0.063 (241/3854, ALSPAC)
A=0.064 (236/3708, TWINSUK)
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.p12 chr 10 NC_000010.11:g.69786817A>G
GRCh37.p13 chr 10 NC_000010.10:g.71546573A>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
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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.11801 G=0.88199
gnomAD - Genomes Global Study-wide 30912 A=0.1154 G=0.8846
gnomAD - Genomes European Sub 18482 A=0.0697 G=0.9303
gnomAD - Genomes African Sub 8694 A=0.201 G=0.799
gnomAD - Genomes East Asian Sub 1618 A=0.213 G=0.787
gnomAD - Genomes Other Sub 978 A=0.08 G=0.92
gnomAD - Genomes American Sub 838 A=0.08 G=0.92
gnomAD - Genomes Ashkenazi Jewish Sub 302 A=0.13 G=0.87
1000Genomes Global Study-wide 5008 A=0.170 G=0.830
1000Genomes African Sub 1322 A=0.241 G=0.759
1000Genomes East Asian Sub 1008 A=0.235 G=0.765
1000Genomes Europe Sub 1006 A=0.053 G=0.947
1000Genomes South Asian Sub 978 A=0.18 G=0.82
1000Genomes American Sub 694 A=0.09 G=0.91
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.076 G=0.924
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.063 G=0.937
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.064 G=0.936
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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 Note
GRCh38.p12 chr 10 NC_000010.11:g.69786817A= NC_000010.11:g.69786817A>G
GRCh37.p13 chr 10 NC_000010.10:g.71546573A= NC_000010.10:g.71546573A>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#.

95 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3357181 Sep 28, 2001 (100)
2 SC_JCM ss3821937 Sep 28, 2001 (100)
3 WI_SSAHASNP ss12103936 Jul 11, 2003 (116)
4 SC_SNP ss15558869 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss17397876 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19175468 Feb 27, 2004 (120)
7 SSAHASNP ss20655571 Apr 05, 2004 (121)
8 ILLUMINA ss66644270 Dec 01, 2006 (127)
9 ILLUMINA ss67237683 Dec 01, 2006 (127)
10 ILLUMINA ss67634031 Dec 01, 2006 (127)
11 ILLUMINA ss70716010 May 25, 2008 (130)
12 ILLUMINA ss71283939 May 18, 2007 (127)
13 ILLUMINA ss75531626 Dec 07, 2007 (129)
14 ILLUMINA ss79123266 Dec 15, 2007 (130)
15 HGSV ss81023574 Dec 15, 2007 (130)
16 KRIBB_YJKIM ss84008163 Dec 15, 2007 (130)
17 BCMHGSC_JDW ss88260511 Mar 23, 2008 (129)
18 1000GENOMES ss109544190 Jan 24, 2009 (130)
19 1000GENOMES ss113438453 Jan 25, 2009 (130)
20 ILLUMINA-UK ss119214947 Feb 15, 2009 (130)
21 ILLUMINA ss121966203 Dec 01, 2009 (131)
22 ENSEMBL ss131939123 Dec 01, 2009 (131)
23 ENSEMBL ss137941015 Dec 01, 2009 (131)
24 ILLUMINA ss153893879 Dec 01, 2009 (131)
25 GMI ss155201678 Dec 01, 2009 (131)
26 ILLUMINA ss159372357 Dec 01, 2009 (131)
27 ILLUMINA ss160521553 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss168534105 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss170360907 Jul 04, 2010 (132)
30 ILLUMINA ss171122232 Jul 04, 2010 (132)
31 ILLUMINA ss173213827 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss174612090 Jul 04, 2010 (132)
33 BUSHMAN ss201675447 Jul 04, 2010 (132)
34 BCM-HGSC-SUB ss207341372 Jul 04, 2010 (132)
35 1000GENOMES ss224793389 Jul 14, 2010 (132)
36 1000GENOMES ss235226305 Jul 15, 2010 (132)
37 1000GENOMES ss241922167 Jul 15, 2010 (132)
38 BL ss254408416 May 09, 2011 (134)
39 GMI ss280667546 May 04, 2012 (137)
40 GMI ss286214291 Apr 25, 2013 (138)
41 PJP ss290865164 May 09, 2011 (134)
42 ILLUMINA ss480484634 May 04, 2012 (137)
43 ILLUMINA ss480499016 May 04, 2012 (137)
44 ILLUMINA ss481300510 Sep 08, 2015 (146)
45 ILLUMINA ss485039832 May 04, 2012 (137)
46 ILLUMINA ss537061853 Sep 08, 2015 (146)
47 TISHKOFF ss562033303 Apr 25, 2013 (138)
48 SSMP ss656927333 Apr 25, 2013 (138)
49 ILLUMINA ss778487601 Sep 08, 2015 (146)
50 ILLUMINA ss782966144 Sep 08, 2015 (146)
51 ILLUMINA ss783927953 Sep 08, 2015 (146)
52 ILLUMINA ss825453784 Jul 19, 2016 (147)
53 ILLUMINA ss832222418 Sep 08, 2015 (146)
54 ILLUMINA ss833943559 Sep 08, 2015 (146)
55 EVA-GONL ss987619290 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1077084872 Aug 21, 2014 (142)
57 1000GENOMES ss1337926033 Aug 21, 2014 (142)
58 DDI ss1426360118 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1575196287 Apr 01, 2015 (144)
60 EVA_DECODE ss1597290737 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1624824475 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1667818508 Apr 01, 2015 (144)
63 EVA_SVP ss1713188824 Apr 01, 2015 (144)
64 ILLUMINA ss1751978174 Sep 08, 2015 (146)
65 HAMMER_LAB ss1806445764 Sep 08, 2015 (146)
66 WEILL_CORNELL_DGM ss1930984322 Feb 12, 2016 (147)
67 GENOMED ss1967159939 Jul 19, 2016 (147)
68 JJLAB ss2026218736 Sep 14, 2016 (149)
69 USC_VALOUEV ss2154492642 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2175749896 Dec 20, 2016 (150)
71 TOPMED ss2338789608 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2627579592 Nov 08, 2017 (151)
73 ILLUMINA ss2632725847 Nov 08, 2017 (151)
74 GRF ss2698737457 Nov 08, 2017 (151)
75 GNOMAD ss2890153253 Nov 08, 2017 (151)
76 SWEGEN ss3006679643 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3026900748 Nov 08, 2017 (151)
78 TOPMED ss3122992508 Nov 08, 2017 (151)
79 CSHL ss3349182203 Nov 08, 2017 (151)
80 ILLUMINA ss3626471350 Oct 12, 2018 (152)
81 ILLUMINA ss3630750669 Oct 12, 2018 (152)
82 ILLUMINA ss3632953553 Oct 12, 2018 (152)
83 ILLUMINA ss3633650870 Oct 12, 2018 (152)
84 ILLUMINA ss3634408792 Oct 12, 2018 (152)
85 ILLUMINA ss3635343290 Oct 12, 2018 (152)
86 ILLUMINA ss3636092458 Oct 12, 2018 (152)
87 ILLUMINA ss3637093970 Oct 12, 2018 (152)
88 ILLUMINA ss3637856494 Oct 12, 2018 (152)
89 ILLUMINA ss3638944388 Oct 12, 2018 (152)
90 ILLUMINA ss3639471975 Oct 12, 2018 (152)
91 ILLUMINA ss3640116134 Oct 12, 2018 (152)
92 ILLUMINA ss3641002517 Oct 12, 2018 (152)
93 ILLUMINA ss3641296807 Oct 12, 2018 (152)
94 ILLUMINA ss3642859560 Oct 12, 2018 (152)
95 URBANLAB ss3649402585 Oct 12, 2018 (152)
96 1000Genomes NC_000010.10 - 71546573 Oct 12, 2018 (152)
97 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 71546573 Oct 12, 2018 (152)
98 Genetic variation in the Estonian population NC_000010.10 - 71546573 Oct 12, 2018 (152)
99 gnomAD - Genomes NC_000010.10 - 71546573 Oct 12, 2018 (152)
100 TopMed NC_000010.11 - 69786817 Oct 12, 2018 (152)
101 UK 10K study - Twins NC_000010.10 - 71546573 Oct 12, 2018 (152)
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)
rs59857443 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss81023574, ss3638944388, ss3639471975 NC_000010.8:71216578:A= NC_000010.11:69786816:A= (self)
ss88260511, ss109544190, ss113438453, ss119214947, ss168534105, ss170360907, ss174612090, ss201675447, ss207341372, ss254408416, ss280667546, ss286214291, ss290865164, ss480484634, ss825453784, ss1597290737, ss1713188824, ss3642859560 NC_000010.9:71216578:A= NC_000010.11:69786816:A= (self)
50332439, 27937785, 19833927, 23854774, 27937785, ss224793389, ss235226305, ss241922167, ss480499016, ss481300510, ss485039832, ss537061853, ss562033303, ss656927333, ss778487601, ss782966144, ss783927953, ss832222418, ss833943559, ss987619290, ss1077084872, ss1337926033, ss1426360118, ss1575196287, ss1624824475, ss1667818508, ss1751978174, ss1806445764, ss1930984322, ss1967159939, ss2026218736, ss2154492642, ss2338789608, ss2627579592, ss2632725847, ss2698737457, ss2890153253, ss3006679643, ss3349182203, ss3626471350, ss3630750669, ss3632953553, ss3633650870, ss3634408792, ss3635343290, ss3636092458, ss3637093970, ss3637856494, ss3640116134, ss3641002517, ss3641296807 NC_000010.10:71546572:A= NC_000010.11:69786816:A= (self)
45348074, ss2175749896, ss3026900748, ss3122992508, ss3649402585 NC_000010.11:69786816:A= NC_000010.11:69786816:A= (self)
ss12103936 NT_008583.15:20097720:A= NC_000010.11:69786816:A= (self)
ss15558869, ss17397876, ss19175468, ss20655571 NT_008583.16:20097727:A= NC_000010.11:69786816:A= (self)
ss3357181, ss3821937, ss66644270, ss67237683, ss67634031, ss70716010, ss71283939, ss75531626, ss79123266, ss84008163, ss121966203, ss131939123, ss137941015, ss153893879, ss155201678, ss159372357, ss160521553, ss171122232, ss173213827 NT_030059.13:22351036:A= NC_000010.11:69786816:A= (self)
ss81023574, ss3638944388, ss3639471975 NC_000010.8:71216578:A>G NC_000010.11:69786816:A>G (self)
ss88260511, ss109544190, ss113438453, ss119214947, ss168534105, ss170360907, ss174612090, ss201675447, ss207341372, ss254408416, ss280667546, ss286214291, ss290865164, ss480484634, ss825453784, ss1597290737, ss1713188824, ss3642859560 NC_000010.9:71216578:A>G NC_000010.11:69786816:A>G (self)
50332439, 27937785, 19833927, 23854774, 27937785, ss224793389, ss235226305, ss241922167, ss480499016, ss481300510, ss485039832, ss537061853, ss562033303, ss656927333, ss778487601, ss782966144, ss783927953, ss832222418, ss833943559, ss987619290, ss1077084872, ss1337926033, ss1426360118, ss1575196287, ss1624824475, ss1667818508, ss1751978174, ss1806445764, ss1930984322, ss1967159939, ss2026218736, ss2154492642, ss2338789608, ss2627579592, ss2632725847, ss2698737457, ss2890153253, ss3006679643, ss3349182203, ss3626471350, ss3630750669, ss3632953553, ss3633650870, ss3634408792, ss3635343290, ss3636092458, ss3637093970, ss3637856494, ss3640116134, ss3641002517, ss3641296807 NC_000010.10:71546572:A>G NC_000010.11:69786816:A>G (self)
45348074, ss2175749896, ss3026900748, ss3122992508, ss3649402585 NC_000010.11:69786816:A>G NC_000010.11:69786816:A>G (self)
ss12103936 NT_008583.15:20097720:A>G NC_000010.11:69786816:A>G (self)
ss15558869, ss17397876, ss19175468, ss20655571 NT_008583.16:20097727:A>G NC_000010.11:69786816:A>G (self)
ss3357181, ss3821937, ss66644270, ss67237683, ss67634031, ss70716010, ss71283939, ss75531626, ss79123266, ss84008163, ss121966203, ss131939123, ss137941015, ss153893879, ss155201678, ss159372357, ss160521553, ss171122232, ss173213827 NT_030059.13:22351036:A>G NC_000010.11:69786816: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 rs2247549

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.post58+e54ea20