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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.

rs835015

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:99612653 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.286165 (75745/264690, TOPMED)
T=0.291193 (40749/139938, GnomAD)
T=0.25965 (9833/37870, ALFA) (+ 15 more)
T=0.24672 (4135/16760, 8.3KJPN)
T=0.3175 (1590/5008, 1000G)
T=0.2152 (964/4480, Estonian)
T=0.2475 (954/3854, ALSPAC)
T=0.2478 (919/3708, TWINSUK)
T=0.2386 (699/2930, KOREAN)
T=0.2325 (426/1832, Korea1K)
T=0.233 (233/998, GoNL)
T=0.298 (179/600, NorthernSweden)
T=0.279 (82/294, HapMap)
C=0.337 (83/246, SGDP_PRJ)
T=0.273 (59/216, Qatari)
T=0.318 (68/214, Vietnamese)
T=0.17 (7/40, GENOME_DK)
C=0.45 (10/22, 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 1 NC_000001.11:g.99612653C>T
GRCh37.p13 chr 1 NC_000001.10:g.100078209C>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 (New)
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 37870 C=0.74035 T=0.25965
European Sub 28390 C=0.75925 T=0.24075
African Sub 4676 C=0.6089 T=0.3911
African Others Sub 190 C=0.579 T=0.421
African American Sub 4486 C=0.6101 T=0.3899
Asian Sub 294 C=0.612 T=0.388
East Asian Sub 202 C=0.619 T=0.381
Other Asian Sub 92 C=0.60 T=0.40
Latin American 1 Sub 600 C=0.743 T=0.257
Latin American 2 Sub 1874 C=0.8202 T=0.1798
South Asian Sub 134 C=0.679 T=0.321
Other Sub 1902 C=0.7261 T=0.2739


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=0.713835 T=0.286165
gnomAD - Genomes Global Study-wide 139938 C=0.708807 T=0.291193
gnomAD - Genomes European Sub 75856 C=0.74552 T=0.25448
gnomAD - Genomes African Sub 41874 C=0.60995 T=0.39005
gnomAD - Genomes American Sub 13610 C=0.79471 T=0.20529
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.7581 T=0.2419
gnomAD - Genomes East Asian Sub 3124 C=0.7100 T=0.2900
gnomAD - Genomes Other Sub 2150 C=0.7172 T=0.2828
8.3KJPN JAPANESE Study-wide 16760 C=0.75328 T=0.24672
1000Genomes Global Study-wide 5008 C=0.6825 T=0.3175
1000Genomes African Sub 1322 C=0.5734 T=0.4266
1000Genomes East Asian Sub 1008 C=0.7014 T=0.2986
1000Genomes Europe Sub 1006 C=0.7207 T=0.2793
1000Genomes South Asian Sub 978 C=0.672 T=0.328
1000Genomes American Sub 694 C=0.823 T=0.177
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7848 T=0.2152
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7525 T=0.2475
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7522 T=0.2478
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7614 T=0.2386
Korean Genome Project KOREAN Study-wide 1832 C=0.7675 T=0.2325
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.767 T=0.233
Northern Sweden ACPOP Study-wide 600 C=0.702 T=0.298
HapMap Global Study-wide 294 C=0.721 T=0.279
HapMap American Sub 110 C=0.818 T=0.182
HapMap African Sub 102 C=0.559 T=0.441
HapMap Asian Sub 82 C=0.79 T=0.21
SGDP_PRJ Global Study-wide 246 C=0.337 T=0.663
Qatari Global Study-wide 216 C=0.727 T=0.273
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.682 T=0.318
The Danish reference pan genome Danish Study-wide 40 C=0.82 T=0.17
Siberian Global Study-wide 22 C=0.45 T=0.55
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= T
GRCh38.p13 chr 1 NC_000001.11:g.99612653= NC_000001.11:g.99612653C>T
GRCh37.p13 chr 1 NC_000001.10:g.100078209= NC_000001.10:g.100078209C>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#.

77 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1157486 Oct 05, 2000 (86)
2 CSHL-HAPMAP ss17358610 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19132773 Feb 27, 2004 (120)
4 SSAHASNP ss20526689 Apr 05, 2004 (121)
5 ABI ss41308064 Mar 13, 2006 (126)
6 PERLEGEN ss68775411 May 16, 2007 (127)
7 HUMANGENOME_JCVI ss97961370 Feb 03, 2009 (130)
8 1000GENOMES ss108453877 Jan 23, 2009 (130)
9 ENSEMBL ss138842392 Dec 01, 2009 (131)
10 GMI ss155415857 Dec 01, 2009 (131)
11 ILLUMINA ss160956451 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss163739546 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss164869596 Jul 04, 2010 (132)
14 BUSHMAN ss198832990 Jul 04, 2010 (132)
15 1000GENOMES ss210597686 Jul 14, 2010 (132)
16 1000GENOMES ss218548757 Jul 14, 2010 (132)
17 1000GENOMES ss230656820 Jul 14, 2010 (132)
18 GMI ss275945391 May 04, 2012 (137)
19 PJP ss290580544 May 09, 2011 (134)
20 ILLUMINA ss481804042 May 04, 2012 (137)
21 ILLUMINA ss481836559 May 04, 2012 (137)
22 ILLUMINA ss482798054 Sep 08, 2015 (146)
23 ILLUMINA ss485696733 May 04, 2012 (137)
24 ILLUMINA ss537563333 Sep 08, 2015 (146)
25 TISHKOFF ss554480817 Apr 25, 2013 (138)
26 ILLUMINA ss778628822 Aug 21, 2014 (142)
27 ILLUMINA ss783293928 Aug 21, 2014 (142)
28 ILLUMINA ss784246451 Aug 21, 2014 (142)
29 ILLUMINA ss832555211 Apr 01, 2015 (144)
30 ILLUMINA ss834086403 Aug 21, 2014 (142)
31 EVA-GONL ss975483205 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1068127855 Aug 21, 2014 (142)
33 1000GENOMES ss1292108482 Aug 21, 2014 (142)
34 DDI ss1425911054 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1574271771 Apr 01, 2015 (144)
36 EVA_DECODE ss1584861524 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1600817404 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1643811437 Apr 01, 2015 (144)
39 ILLUMINA ss1751859124 Sep 08, 2015 (146)
40 HAMMER_LAB ss1794807911 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1918682787 Feb 12, 2016 (147)
42 JJLAB ss2019862917 Sep 14, 2016 (149)
43 USC_VALOUEV ss2147881606 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2165032882 Dec 20, 2016 (150)
45 TOPMED ss2327383685 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2624442869 Nov 08, 2017 (151)
47 ILLUMINA ss2632553648 Nov 08, 2017 (151)
48 GRF ss2697808953 Nov 08, 2017 (151)
49 GNOMAD ss2758640063 Nov 08, 2017 (151)
50 SWEGEN ss2987305982 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3023695053 Nov 08, 2017 (151)
52 TOPMED ss3084655289 Nov 08, 2017 (151)
53 CSHL ss3343596028 Nov 08, 2017 (151)
54 ILLUMINA ss3626165324 Oct 11, 2018 (152)
55 ILLUMINA ss3630587824 Oct 11, 2018 (152)
56 ILLUMINA ss3633598292 Oct 11, 2018 (152)
57 ILLUMINA ss3634339266 Oct 11, 2018 (152)
58 ILLUMINA ss3636016821 Oct 11, 2018 (152)
59 ILLUMINA ss3637042358 Oct 11, 2018 (152)
60 ILLUMINA ss3640046626 Oct 11, 2018 (152)
61 URBANLAB ss3646731504 Oct 11, 2018 (152)
62 EGCUT_WGS ss3655391096 Jul 12, 2019 (153)
63 EVA_DECODE ss3687367514 Jul 12, 2019 (153)
64 ACPOP ss3727314254 Jul 12, 2019 (153)
65 ILLUMINA ss3744640235 Jul 12, 2019 (153)
66 EVA ss3746574381 Jul 12, 2019 (153)
67 ILLUMINA ss3772141472 Jul 12, 2019 (153)
68 KHV_HUMAN_GENOMES ss3799575143 Jul 12, 2019 (153)
69 EVA ss3826326694 Apr 25, 2020 (154)
70 EVA ss3836553624 Apr 25, 2020 (154)
71 EVA ss3841961620 Apr 25, 2020 (154)
72 SGDP_PRJ ss3849477980 Apr 25, 2020 (154)
73 KRGDB ss3894556033 Apr 25, 2020 (154)
74 KOGIC ss3945091703 Apr 25, 2020 (154)
75 EVA ss4016927703 Apr 25, 2021 (155)
76 TOPMED ss4460705181 Apr 25, 2021 (155)
77 TOMMO_GENOMICS ss5145314094 Apr 25, 2021 (155)
78 1000Genomes NC_000001.10 - 100078209 Oct 11, 2018 (152)
79 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 100078209 Oct 11, 2018 (152)
80 Genetic variation in the Estonian population NC_000001.10 - 100078209 Oct 11, 2018 (152)
81 The Danish reference pan genome NC_000001.10 - 100078209 Apr 25, 2020 (154)
82 gnomAD - Genomes NC_000001.11 - 99612653 Apr 25, 2021 (155)
83 Genome of the Netherlands Release 5 NC_000001.10 - 100078209 Apr 25, 2020 (154)
84 HapMap NC_000001.11 - 99612653 Apr 25, 2020 (154)
85 KOREAN population from KRGDB NC_000001.10 - 100078209 Apr 25, 2020 (154)
86 Korean Genome Project NC_000001.11 - 99612653 Apr 25, 2020 (154)
87 Northern Sweden NC_000001.10 - 100078209 Jul 12, 2019 (153)
88 Qatari NC_000001.10 - 100078209 Apr 25, 2020 (154)
89 SGDP_PRJ NC_000001.10 - 100078209 Apr 25, 2020 (154)
90 Siberian NC_000001.10 - 100078209 Apr 25, 2020 (154)
91 8.3KJPN NC_000001.10 - 100078209 Apr 25, 2021 (155)
92 TopMed NC_000001.11 - 99612653 Apr 25, 2021 (155)
93 UK 10K study - Twins NC_000001.10 - 100078209 Oct 11, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000001.10 - 100078209 Jul 12, 2019 (153)
95 ALFA NC_000001.11 - 99612653 Apr 25, 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)
rs386616828 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss108453877, ss163739546, ss164869596, ss198832990, ss210597686, ss275945391, ss290580544, ss481804042, ss1584861524 NC_000001.9:99850796:C:T NC_000001.11:99612652:C:T (self)
2872074, 1584366, 1129344, 1629042, 687299, 1733427, 599119, 724717, 1494960, 397960, 3283401, 1584366, 341307, ss218548757, ss230656820, ss481836559, ss482798054, ss485696733, ss537563333, ss554480817, ss778628822, ss783293928, ss784246451, ss832555211, ss834086403, ss975483205, ss1068127855, ss1292108482, ss1425911054, ss1574271771, ss1600817404, ss1643811437, ss1751859124, ss1794807911, ss1918682787, ss2019862917, ss2147881606, ss2327383685, ss2624442869, ss2632553648, ss2697808953, ss2758640063, ss2987305982, ss3343596028, ss3626165324, ss3630587824, ss3633598292, ss3634339266, ss3636016821, ss3637042358, ss3640046626, ss3655391096, ss3727314254, ss3744640235, ss3746574381, ss3772141472, ss3826326694, ss3836553624, ss3849477980, ss3894556033, ss4016927703, ss5145314094 NC_000001.10:100078208:C:T NC_000001.11:99612652:C:T (self)
20302838, 136620, 1469704, 15312124, 24311516, 10659199791, ss2165032882, ss3023695053, ss3084655289, ss3646731504, ss3687367514, ss3799575143, ss3841961620, ss3945091703, ss4460705181 NC_000001.11:99612652:C:T NC_000001.11:99612652:C:T (self)
ss17358610, ss19132773, ss20526689 NT_028050.13:8267152:C:T NC_000001.11:99612652:C:T (self)
ss1157486, ss41308064, ss68775411, ss97961370, ss138842392, ss155415857, ss160956451 NT_032977.9:70050126:C:T NC_000001.11:99612652: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 rs835015

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