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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.

rs10747502

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr1:99058491 (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=0.13809 (17340/125568, TOPMED)
A=0.1401 (4331/30916, GnomAD)
A=0.125 (627/5008, 1000G) (+ 3 more)
A=0.095 (424/4480, Estonian)
A=0.082 (315/3854, ALSPAC)
A=0.085 (317/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC100129620 : Intron Variant
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 1 NC_000001.11:g.99058491A>G
GRCh37.p13 chr 1 NC_000001.10:g.99524047A>G
Gene: LOC100129620, uncharacterized LOC100129620 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100129620 transcript NR_033940.1:n. N/A Intron Variant
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=0.13809 G=0.86191
gnomAD - Genomes Global Study-wide 30916 A=0.1401 G=0.8599
gnomAD - Genomes European Sub 18466 A=0.0891 G=0.9109
gnomAD - Genomes African Sub 8716 A=0.284 G=0.716
gnomAD - Genomes East Asian Sub 1614 A=0.003 G=0.997
gnomAD - Genomes Other Sub 980 A=0.12 G=0.88
gnomAD - Genomes American Sub 838 A=0.06 G=0.94
gnomAD - Genomes Ashkenazi Jewish Sub 302 A=0.16 G=0.84
1000Genomes Global Study-wide 5008 A=0.125 G=0.875
1000Genomes African Sub 1322 A=0.329 G=0.671
1000Genomes East Asian Sub 1008 A=0.005 G=0.995
1000Genomes Europe Sub 1006 A=0.072 G=0.928
1000Genomes South Asian Sub 978 A=0.07 G=0.93
1000Genomes American Sub 694 A=0.06 G=0.94
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.095 G=0.905
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.082 G=0.918
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.085 G=0.915
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 Note
GRCh38.p12 chr 1 NC_000001.11:g.99058491A= NC_000001.11:g.99058491A>G
GRCh37.p13 chr 1 NC_000001.10:g.99524047A= NC_000001.10:g.99524047A>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#.

100 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15394655 Feb 27, 2004 (120)
2 SC_SNP ss18100845 Feb 27, 2004 (120)
3 SC_SNP ss18180945 Feb 27, 2004 (120)
4 SC_SNP ss18275101 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss19855056 Feb 27, 2004 (120)
6 ABI ss44083856 Mar 13, 2006 (126)
7 ILLUMINA ss66571079 Nov 29, 2006 (127)
8 ILLUMINA ss66897933 Nov 29, 2006 (127)
9 ILLUMINA ss67009864 Nov 29, 2006 (127)
10 ILLUMINA ss70377837 May 16, 2007 (127)
11 ILLUMINA ss70494010 May 26, 2008 (130)
12 ILLUMINA ss71018916 May 16, 2007 (127)
13 ILLUMINA ss75744030 Dec 06, 2007 (129)
14 AFFY ss76614909 Dec 08, 2007 (130)
15 HGSV ss78381710 Dec 06, 2007 (129)
16 KRIBB_YJKIM ss84986998 Dec 16, 2007 (130)
17 BCMHGSC_JDW ss87654341 Mar 23, 2008 (129)
18 HUMANGENOME_JCVI ss99232474 Feb 06, 2009 (130)
19 BGI ss106589427 Feb 06, 2009 (130)
20 1000GENOMES ss108450795 Jan 23, 2009 (130)
21 1000GENOMES ss110884904 Jan 25, 2009 (130)
22 ILLUMINA-UK ss118917155 Feb 15, 2009 (130)
23 ILLUMINA ss121377652 Dec 01, 2009 (131)
24 ENSEMBL ss131830284 Dec 01, 2009 (131)
25 ENSEMBL ss138044531 Dec 01, 2009 (131)
26 ILLUMINA ss152804576 Dec 01, 2009 (131)
27 GMI ss155412315 Dec 01, 2009 (131)
28 ILLUMINA ss159138898 Dec 01, 2009 (131)
29 ILLUMINA ss159914512 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss163731210 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss164864510 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss166901161 Jul 04, 2010 (132)
33 ILLUMINA ss169587358 Jul 04, 2010 (132)
34 ILLUMINA ss170443557 Jul 04, 2010 (132)
35 BUSHMAN ss198827956 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss205149035 Jul 04, 2010 (132)
37 1000GENOMES ss218546378 Jul 14, 2010 (132)
38 1000GENOMES ss230655233 Jul 14, 2010 (132)
39 1000GENOMES ss238322657 Jul 15, 2010 (132)
40 BL ss253313757 May 09, 2011 (134)
41 GMI ss275944071 May 04, 2012 (137)
42 GMI ss284105167 Apr 25, 2013 (138)
43 PJP ss290579916 May 09, 2011 (134)
44 ILLUMINA ss479329877 May 04, 2012 (137)
45 ILLUMINA ss479332986 May 04, 2012 (137)
46 ILLUMINA ss479723915 Sep 08, 2015 (146)
47 ILLUMINA ss484465162 May 04, 2012 (137)
48 ILLUMINA ss536628039 Sep 08, 2015 (146)
49 TISHKOFF ss554476610 Apr 25, 2013 (138)
50 SSMP ss648251020 Apr 25, 2013 (138)
51 ILLUMINA ss778738154 Sep 08, 2015 (146)
52 ILLUMINA ss782679148 Sep 08, 2015 (146)
53 ILLUMINA ss783647685 Sep 08, 2015 (146)
54 ILLUMINA ss825347448 Apr 01, 2015 (144)
55 ILLUMINA ss831929914 Sep 08, 2015 (146)
56 ILLUMINA ss834197709 Sep 08, 2015 (146)
57 EVA-GONL ss975478740 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1068124860 Aug 21, 2014 (142)
59 1000GENOMES ss1292092368 Aug 21, 2014 (142)
60 HAMMER_LAB ss1397255021 Sep 08, 2015 (146)
61 DDI ss1425909971 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1574268346 Apr 01, 2015 (144)
63 EVA_DECODE ss1584856954 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1600808912 Apr 01, 2015 (144)
65 EVA_UK10K_TWINSUK ss1643802945 Apr 01, 2015 (144)
66 EVA_SVP ss1712356821 Apr 01, 2015 (144)
67 ILLUMINA ss1751941773 Sep 08, 2015 (146)
68 HAMMER_LAB ss1794802087 Sep 08, 2015 (146)
69 WEILL_CORNELL_DGM ss1918678243 Feb 12, 2016 (147)
70 ILLUMINA ss1958296604 Feb 12, 2016 (147)
71 GENOMED ss1966819928 Jul 19, 2016 (147)
72 JJLAB ss2019860648 Sep 14, 2016 (149)
73 USC_VALOUEV ss2147879501 Dec 20, 2016 (150)
74 HUMAN_LONGEVITY ss2165000017 Dec 20, 2016 (150)
75 TOPMED ss2327349861 Dec 20, 2016 (150)
76 SYSTEMSBIOZJU ss2624441970 Nov 08, 2017 (151)
77 ILLUMINA ss2632553147 Nov 08, 2017 (151)
78 GRF ss2697806820 Nov 08, 2017 (151)
79 GNOMAD ss2758595608 Nov 08, 2017 (151)
80 AFFY ss2985519849 Nov 08, 2017 (151)
81 SWEGEN ss2987299805 Nov 08, 2017 (151)
82 ILLUMINA ss3021113571 Nov 08, 2017 (151)
83 BIOINF_KMB_FNS_UNIBA ss3023694129 Nov 08, 2017 (151)
84 TOPMED ss3084553922 Nov 08, 2017 (151)
85 CSHL ss3343594135 Nov 08, 2017 (151)
86 ILLUMINA ss3626164480 Oct 11, 2018 (152)
87 ILLUMINA ss3630587334 Oct 11, 2018 (152)
88 ILLUMINA ss3632903134 Oct 11, 2018 (152)
89 ILLUMINA ss3633598131 Oct 11, 2018 (152)
90 ILLUMINA ss3634339100 Oct 11, 2018 (152)
91 ILLUMINA ss3635291746 Oct 11, 2018 (152)
92 ILLUMINA ss3636016620 Oct 11, 2018 (152)
93 ILLUMINA ss3637042200 Oct 11, 2018 (152)
94 ILLUMINA ss3637775248 Oct 11, 2018 (152)
95 ILLUMINA ss3638905716 Oct 11, 2018 (152)
96 ILLUMINA ss3639450806 Oct 11, 2018 (152)
97 ILLUMINA ss3640046460 Oct 11, 2018 (152)
98 ILLUMINA ss3642785452 Oct 11, 2018 (152)
99 URBANLAB ss3646730959 Oct 11, 2018 (152)
100 ILLUMINA ss3651444322 Oct 11, 2018 (152)
101 1000Genomes NC_000001.10 - 99524047 Oct 11, 2018 (152)
102 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 99524047 Oct 11, 2018 (152)
103 Genetic variation in the Estonian population NC_000001.10 - 99524047 Oct 11, 2018 (152)
104 gnomAD - Genomes NC_000001.10 - 99524047 Oct 11, 2018 (152)
105 TopMed NC_000001.11 - 99058491 Oct 11, 2018 (152)
106 UK 10K study - Twins NC_000001.10 - 99524047 Oct 11, 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)
rs56617006 May 26, 2008 (130)
rs61451383 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss78381710, ss3638905716, ss3639450806 NC_000001.8:99236067:A:G NC_000001.11:99058490:A:G (self)
ss87654341, ss108450795, ss110884904, ss118917155, ss163731210, ss164864510, ss166901161, ss198827956, ss205149035, ss253313757, ss275944071, ss284105167, ss290579916, ss479329877, ss825347448, ss1397255021, ss1584856954, ss1712356821, ss3642785452 NC_000001.9:99296634:A:G NC_000001.11:99058490:A:G (self)
2855409, 1575087, 1122504, 7994807, 1575087, ss218546378, ss230655233, ss238322657, ss479332986, ss479723915, ss484465162, ss536628039, ss554476610, ss648251020, ss778738154, ss782679148, ss783647685, ss831929914, ss834197709, ss975478740, ss1068124860, ss1292092368, ss1425909971, ss1574268346, ss1600808912, ss1643802945, ss1751941773, ss1794802087, ss1918678243, ss1958296604, ss1966819928, ss2019860648, ss2147879501, ss2327349861, ss2624441970, ss2632553147, ss2697806820, ss2758595608, ss2985519849, ss2987299805, ss3021113571, ss3343594135, ss3626164480, ss3630587334, ss3632903134, ss3633598131, ss3634339100, ss3635291746, ss3636016620, ss3637042200, ss3637775248, ss3640046460, ss3651444322 NC_000001.10:99524046:A:G NC_000001.11:99058490:A:G (self)
15223694, ss2165000017, ss3023694129, ss3084553922, ss3646730959 NC_000001.11:99058490:A:G NC_000001.11:99058490:A:G (self)
ss15394655, ss18100845, ss18180945, ss18275101, ss19855056 NT_028050.13:7712990:A:G NC_000001.11:99058490:A:G (self)
ss44083856, ss66571079, ss66897933, ss67009864, ss70377837, ss70494010, ss71018916, ss75744030, ss76614909, ss84986998, ss99232474, ss106589427, ss121377652, ss131830284, ss138044531, ss152804576, ss155412315, ss159138898, ss159914512, ss169587358, ss170443557 NT_032977.9:69495964:A:G NC_000001.11:99058490: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 rs10747502

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.post104+4a6ee9c