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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.

rs17156036

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:1178489 (GRCh38.p14) 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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.249964 (66163/264690, TOPMED)
C=0.243160 (34041/139994, GnomAD)
C=0.25319 (8490/33532, ALFA) (+ 17 more)
C=0.32738 (9251/28258, 14KJPN)
C=0.32918 (5517/16760, 8.3KJPN)
C=0.2425 (1553/6404, 1000G_30x)
C=0.2430 (1217/5008, 1000G)
C=0.2230 (999/4480, Estonian)
C=0.2410 (929/3854, ALSPAC)
C=0.2619 (971/3708, TWINSUK)
C=0.3696 (1083/2930, KOREAN)
C=0.3488 (639/1832, Korea1K)
C=0.271 (270/998, GoNL)
C=0.282 (169/600, NorthernSweden)
T=0.426 (98/230, SGDP_PRJ)
C=0.218 (47/216, Qatari)
C=0.229 (48/210, Vietnamese)
C=0.40 (16/40, GENOME_DK)
T=0.50 (9/18, Siberian)
C=0.50 (9/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADARB2 : 3 Prime UTR Variant
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 33532 T=0.74681 C=0.25319
European Sub 24722 T=0.74614 C=0.25386
African Sub 5798 T=0.7541 C=0.2459
African Others Sub 208 T=0.755 C=0.245
African American Sub 5590 T=0.7540 C=0.2460
Asian Sub 128 T=0.734 C=0.266
East Asian Sub 100 T=0.68 C=0.32
Other Asian Sub 28 T=0.93 C=0.07
Latin American 1 Sub 168 T=0.744 C=0.256
Latin American 2 Sub 698 T=0.721 C=0.279
South Asian Sub 114 T=0.754 C=0.246
Other Sub 1904 T=0.7437 C=0.2563


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 T=0.750036 C=0.249964
gnomAD - Genomes Global Study-wide 139994 T=0.756840 C=0.243160
gnomAD - Genomes European Sub 75830 T=0.75001 C=0.24999
gnomAD - Genomes African Sub 41924 T=0.76903 C=0.23097
gnomAD - Genomes American Sub 13640 T=0.78021 C=0.21979
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.7166 C=0.2834
gnomAD - Genomes East Asian Sub 3134 T=0.7004 C=0.2996
gnomAD - Genomes Other Sub 2146 T=0.7563 C=0.2437
Allele Frequency Aggregator Total Global 33532 T=0.74681 C=0.25319
Allele Frequency Aggregator European Sub 24722 T=0.74614 C=0.25386
Allele Frequency Aggregator African Sub 5798 T=0.7541 C=0.2459
Allele Frequency Aggregator Other Sub 1904 T=0.7437 C=0.2563
Allele Frequency Aggregator Latin American 2 Sub 698 T=0.721 C=0.279
Allele Frequency Aggregator Latin American 1 Sub 168 T=0.744 C=0.256
Allele Frequency Aggregator Asian Sub 128 T=0.734 C=0.266
Allele Frequency Aggregator South Asian Sub 114 T=0.754 C=0.246
14KJPN JAPANESE Study-wide 28258 T=0.67262 C=0.32738
8.3KJPN JAPANESE Study-wide 16760 T=0.67082 C=0.32918
1000Genomes_30x Global Study-wide 6404 T=0.7575 C=0.2425
1000Genomes_30x African Sub 1786 T=0.7419 C=0.2581
1000Genomes_30x Europe Sub 1266 T=0.7749 C=0.2251
1000Genomes_30x South Asian Sub 1202 T=0.7962 C=0.2038
1000Genomes_30x East Asian Sub 1170 T=0.6940 C=0.3060
1000Genomes_30x American Sub 980 T=0.792 C=0.208
1000Genomes Global Study-wide 5008 T=0.7570 C=0.2430
1000Genomes African Sub 1322 T=0.7458 C=0.2542
1000Genomes East Asian Sub 1008 T=0.6974 C=0.3026
1000Genomes Europe Sub 1006 T=0.7714 C=0.2286
1000Genomes South Asian Sub 978 T=0.792 C=0.208
1000Genomes American Sub 694 T=0.794 C=0.206
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7770 C=0.2230
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7590 C=0.2410
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7381 C=0.2619
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6304 C=0.3696
Korean Genome Project KOREAN Study-wide 1832 T=0.6512 C=0.3488
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.729 C=0.271
Northern Sweden ACPOP Study-wide 600 T=0.718 C=0.282
SGDP_PRJ Global Study-wide 230 T=0.426 C=0.574
Qatari Global Study-wide 216 T=0.782 C=0.218
A Vietnamese Genetic Variation Database Global Study-wide 210 T=0.771 C=0.229
The Danish reference pan genome Danish Study-wide 40 T=0.60 C=0.40
Siberian Global Study-wide 18 T=0.50 C=0.50
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.p14 chr 10 NC_000010.11:g.1178489T>C
GRCh37.p13 chr 10 NC_000010.10:g.1224429T>C
Gene: ADARB2, adenosine deaminase RNA specific B2 (inactive) (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADARB2 transcript NM_018702.4:c.*4704= N/A 3 Prime UTR 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

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 T= C
GRCh38.p14 chr 10 NC_000010.11:g.1178489= NC_000010.11:g.1178489T>C
GRCh37.p13 chr 10 NC_000010.10:g.1224429= NC_000010.10:g.1224429T>C
ADARB2 transcript NM_018702.4:c.*4704= NM_018702.4:c.*4704A>G
ADARB2 transcript NM_018702.3:c.*4704= NM_018702.3:c.*4704A>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#.

66 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss24146772 Sep 20, 2004 (123)
2 HGSV ss78690812 Dec 07, 2007 (129)
3 1000GENOMES ss109151689 Jan 23, 2009 (130)
4 1000GENOMES ss210878179 Jul 14, 2010 (132)
5 1000GENOMES ss224516680 Jul 14, 2010 (132)
6 1000GENOMES ss235015414 Jul 15, 2010 (132)
7 1000GENOMES ss241755688 Jul 15, 2010 (132)
8 GMI ss280443440 May 04, 2012 (137)
9 GMI ss286111891 Apr 25, 2013 (138)
10 ILLUMINA ss482489080 May 04, 2012 (137)
11 ILLUMINA ss483953515 May 04, 2012 (137)
12 ILLUMINA ss536147463 Sep 08, 2015 (146)
13 TISHKOFF ss561713152 Apr 25, 2013 (138)
14 SSMP ss656215149 Apr 25, 2013 (138)
15 ILLUMINA ss778682747 Aug 21, 2014 (142)
16 ILLUMINA ss782420721 Aug 21, 2014 (142)
17 ILLUMINA ss834141342 Aug 21, 2014 (142)
18 EVA-GONL ss987106849 Aug 21, 2014 (142)
19 JMKIDD_LAB ss1076693404 Aug 21, 2014 (142)
20 1000GENOMES ss1335951571 Aug 21, 2014 (142)
21 DDI ss1426191641 Apr 01, 2015 (144)
22 EVA_GENOME_DK ss1574847875 Apr 01, 2015 (144)
23 EVA_DECODE ss1596753711 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1623816854 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1666810887 Apr 01, 2015 (144)
26 HAMMER_LAB ss1806215830 Sep 08, 2015 (146)
27 WEILL_CORNELL_DGM ss1930425071 Feb 12, 2016 (147)
28 GENOMED ss1967036501 Jul 19, 2016 (147)
29 JJLAB ss2025933944 Sep 14, 2016 (149)
30 USC_VALOUEV ss2154174662 Dec 20, 2016 (150)
31 HUMAN_LONGEVITY ss2172010538 Dec 20, 2016 (150)
32 SYSTEMSBIOZJU ss2627434658 Nov 08, 2017 (151)
33 ILLUMINA ss2632662339 Nov 08, 2017 (151)
34 GRF ss2698395184 Nov 08, 2017 (151)
35 GNOMAD ss2884630045 Nov 08, 2017 (151)
36 SWEGEN ss3005799794 Nov 08, 2017 (151)
37 BIOINF_KMB_FNS_UNIBA ss3026748778 Nov 08, 2017 (151)
38 CSHL ss3348916059 Nov 08, 2017 (151)
39 ILLUMINA ss3626366172 Oct 12, 2018 (152)
40 ILLUMINA ss3630690600 Oct 12, 2018 (152)
41 EGCUT_WGS ss3673329236 Jul 13, 2019 (153)
42 EVA_DECODE ss3689115127 Jul 13, 2019 (153)
43 ACPOP ss3736981788 Jul 13, 2019 (153)
44 EVA ss3747639958 Jul 13, 2019 (153)
45 KHV_HUMAN_GENOMES ss3813004016 Jul 13, 2019 (153)
46 EVA ss3831920808 Apr 26, 2020 (154)
47 EVA ss3839489020 Apr 26, 2020 (154)
48 EVA ss3844954554 Apr 26, 2020 (154)
49 SGDP_PRJ ss3873350587 Apr 26, 2020 (154)
50 KRGDB ss3921281433 Apr 26, 2020 (154)
51 KOGIC ss3967044196 Apr 26, 2020 (154)
52 TOPMED ss4839837463 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5195895828 Apr 26, 2021 (155)
54 1000G_HIGH_COVERAGE ss5282631117 Oct 16, 2022 (156)
55 EVA ss5315442995 Oct 16, 2022 (156)
56 EVA ss5391076557 Oct 16, 2022 (156)
57 HUGCELL_USP ss5478439223 Oct 16, 2022 (156)
58 EVA ss5509877049 Oct 16, 2022 (156)
59 1000G_HIGH_COVERAGE ss5575889817 Oct 16, 2022 (156)
60 SANFORD_IMAGENETICS ss5648508110 Oct 16, 2022 (156)
61 TOMMO_GENOMICS ss5740636852 Oct 16, 2022 (156)
62 YY_MCH ss5811118511 Oct 16, 2022 (156)
63 EVA ss5823857095 Oct 16, 2022 (156)
64 EVA ss5849397910 Oct 16, 2022 (156)
65 EVA ss5877411096 Oct 16, 2022 (156)
66 EVA ss5939788008 Oct 16, 2022 (156)
67 1000Genomes NC_000010.10 - 1224429 Oct 12, 2018 (152)
68 1000Genomes_30x NC_000010.11 - 1178489 Oct 16, 2022 (156)
69 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 1224429 Oct 12, 2018 (152)
70 Genetic variation in the Estonian population NC_000010.10 - 1224429 Oct 12, 2018 (152)
71 The Danish reference pan genome NC_000010.10 - 1224429 Apr 26, 2020 (154)
72 gnomAD - Genomes NC_000010.11 - 1178489 Apr 26, 2021 (155)
73 Genome of the Netherlands Release 5 NC_000010.10 - 1224429 Apr 26, 2020 (154)
74 KOREAN population from KRGDB NC_000010.10 - 1224429 Apr 26, 2020 (154)
75 Korean Genome Project NC_000010.11 - 1178489 Apr 26, 2020 (154)
76 Northern Sweden NC_000010.10 - 1224429 Jul 13, 2019 (153)
77 Qatari NC_000010.10 - 1224429 Apr 26, 2020 (154)
78 SGDP_PRJ NC_000010.10 - 1224429 Apr 26, 2020 (154)
79 Siberian NC_000010.10 - 1224429 Apr 26, 2020 (154)
80 8.3KJPN NC_000010.10 - 1224429 Apr 26, 2021 (155)
81 14KJPN NC_000010.11 - 1178489 Oct 16, 2022 (156)
82 TopMed NC_000010.11 - 1178489 Apr 26, 2021 (155)
83 UK 10K study - Twins NC_000010.10 - 1224429 Oct 12, 2018 (152)
84 A Vietnamese Genetic Variation Database NC_000010.10 - 1224429 Jul 13, 2019 (153)
85 ALFA NC_000010.11 - 1178489 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
ss78690812 NC_000010.8:1214428:T:C NC_000010.11:1178488:T:C (self)
ss109151689, ss210878179, ss280443440, ss286111891, ss482489080, ss1596753711 NC_000010.9:1214428:T:C NC_000010.11:1178488:T:C (self)
48286934, 26827908, 19067484, 1991342, 11963356, 28458827, 10266653, 12467001, 25367567, 6691016, 53865135, 26827908, 5952703, ss224516680, ss235015414, ss241755688, ss483953515, ss536147463, ss561713152, ss656215149, ss778682747, ss782420721, ss834141342, ss987106849, ss1076693404, ss1335951571, ss1426191641, ss1574847875, ss1623816854, ss1666810887, ss1806215830, ss1930425071, ss1967036501, ss2025933944, ss2154174662, ss2627434658, ss2632662339, ss2698395184, ss2884630045, ss3005799794, ss3348916059, ss3626366172, ss3630690600, ss3673329236, ss3736981788, ss3747639958, ss3831920808, ss3839489020, ss3873350587, ss3921281433, ss5195895828, ss5315442995, ss5391076557, ss5509877049, ss5648508110, ss5823857095, ss5939788008 NC_000010.10:1224428:T:C NC_000010.11:1178488:T:C (self)
63415752, 341212857, 23422197, 74473956, 55383118, 7046257644, ss2172010538, ss3026748778, ss3689115127, ss3813004016, ss3844954554, ss3967044196, ss4839837463, ss5282631117, ss5478439223, ss5575889817, ss5740636852, ss5811118511, ss5849397910, ss5877411096 NC_000010.11:1178488:T:C NC_000010.11:1178488:T:C (self)
ss24146772 NT_008705.16:1164428:T:C NC_000010.11:1178488:T:C (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 rs17156036

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.post761+d5e8e07