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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.

rs11165555

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:96155033 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.351853 (93132/264690, TOPMED)
T=0.332762 (46556/139908, GnomAD)
T=0.36177 (11154/30832, ALFA) (+ 15 more)
G=0.31450 (5271/16760, 8.3KJPN)
T=0.3804 (1905/5008, 1000G)
T=0.3473 (1556/4480, Estonian)
T=0.3835 (1478/3854, ALSPAC)
T=0.3703 (1373/3708, TWINSUK)
G=0.2758 (808/2930, KOREAN)
G=0.2959 (542/1832, Korea1K)
T=0.361 (360/998, GoNL)
T=0.340 (204/600, NorthernSweden)
G=0.296 (113/382, SGDP_PRJ)
T=0.292 (63/216, Qatari)
G=0.481 (103/214, Vietnamese)
T=0.473 (89/188, HapMap)
G=0.36 (15/42, Siberian)
T=0.25 (10/40, GENOME_DK)
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.96155033G>A
GRCh38.p13 chr 1 NC_000001.11:g.96155033G>T
GRCh37.p13 chr 1 NC_000001.10:g.96620589G>A
GRCh37.p13 chr 1 NC_000001.10:g.96620589G>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
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 30832 G=0.63823 T=0.36177
European Sub 24702 G=0.62218 T=0.37782
African Sub 3168 G=0.8605 T=0.1395
African Others Sub 124 G=0.895 T=0.105
African American Sub 3044 G=0.8591 T=0.1409
Asian Sub 128 G=0.398 T=0.602
East Asian Sub 100 G=0.37 T=0.63
Other Asian Sub 28 G=0.50 T=0.50
Latin American 1 Sub 168 G=0.696 T=0.304
Latin American 2 Sub 700 G=0.364 T=0.636
South Asian Sub 114 G=0.719 T=0.281
Other Sub 1852 G=0.5821 T=0.4179


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 G=0.648147 T=0.351853
gnomAD - Genomes Global Study-wide 139908 G=0.667238 T=0.332762
gnomAD - Genomes European Sub 75770 G=0.62026 T=0.37974
gnomAD - Genomes African Sub 41942 G=0.84865 T=0.15135
gnomAD - Genomes American Sub 13622 G=0.47086 T=0.52914
gnomAD - Genomes Ashkenazi Jewish Sub 3314 G=0.5917 T=0.4083
gnomAD - Genomes East Asian Sub 3114 G=0.3362 T=0.6638
gnomAD - Genomes Other Sub 2146 G=0.6240 T=0.3760
8.3KJPN JAPANESE Study-wide 16760 G=0.31450 T=0.68550
1000Genomes Global Study-wide 5008 G=0.6196 T=0.3804
1000Genomes African Sub 1322 G=0.9070 T=0.0930
1000Genomes East Asian Sub 1008 G=0.3651 T=0.6349
1000Genomes Europe Sub 1006 G=0.6203 T=0.3797
1000Genomes South Asian Sub 978 G=0.635 T=0.365
1000Genomes American Sub 694 G=0.419 T=0.581
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6527 T=0.3473
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6165 T=0.3835
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6297 T=0.3703
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2758 A=0.0000, T=0.7242
Korean Genome Project KOREAN Study-wide 1832 G=0.2959 T=0.7041
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.639 T=0.361
Northern Sweden ACPOP Study-wide 600 G=0.660 T=0.340
SGDP_PRJ Global Study-wide 382 G=0.296 T=0.704
Qatari Global Study-wide 216 G=0.708 T=0.292
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.481 T=0.519
HapMap Global Study-wide 188 G=0.527 T=0.473
HapMap American Sub 110 G=0.627 T=0.373
HapMap Asian Sub 78 G=0.38 T=0.62
Siberian Global Study-wide 42 G=0.36 T=0.64
The Danish reference pan genome Danish Study-wide 40 G=0.75 T=0.25
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 G= A T
GRCh38.p13 chr 1 NC_000001.11:g.96155033= NC_000001.11:g.96155033G>A NC_000001.11:g.96155033G>T
GRCh37.p13 chr 1 NC_000001.10:g.96620589= NC_000001.10:g.96620589G>A NC_000001.10:g.96620589G>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#.

70 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18069705 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss19829353 Feb 27, 2004 (120)
3 SSAHASNP ss20429244 Apr 05, 2004 (121)
4 ABI ss41121909 Mar 14, 2006 (126)
5 HGSV ss78660125 Dec 07, 2007 (129)
6 HUMANGENOME_JCVI ss99230671 Feb 06, 2009 (130)
7 1000GENOMES ss108434561 Jan 23, 2009 (130)
8 1000GENOMES ss110857965 Jan 25, 2009 (130)
9 ENSEMBL ss142583868 Dec 01, 2009 (131)
10 GMI ss155381423 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss163698368 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss164832956 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss166880404 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss205437536 Jul 04, 2010 (132)
15 1000GENOMES ss218537039 Jul 14, 2010 (132)
16 1000GENOMES ss230647612 Jul 14, 2010 (132)
17 1000GENOMES ss238317091 Jul 15, 2010 (132)
18 GMI ss275936962 May 04, 2012 (137)
19 PJP ss290576160 May 09, 2011 (134)
20 ILLUMINA ss482441231 May 04, 2012 (137)
21 ILLUMINA ss484148874 May 04, 2012 (137)
22 ILLUMINA ss536338492 Sep 08, 2015 (146)
23 TISHKOFF ss554458723 Apr 25, 2013 (138)
24 SSMP ss648237946 Apr 25, 2013 (138)
25 ILLUMINA ss780545131 Sep 08, 2015 (146)
26 ILLUMINA ss782520153 Sep 08, 2015 (146)
27 ILLUMINA ss836037059 Sep 08, 2015 (146)
28 EVA-GONL ss975457635 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1068110160 Aug 21, 2014 (142)
30 1000GENOMES ss1292013429 Aug 21, 2014 (142)
31 DDI ss1425904680 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1574252601 Apr 01, 2015 (144)
33 EVA_DECODE ss1584834945 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1600765739 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1643759772 Apr 01, 2015 (144)
36 HAMMER_LAB ss1794777803 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1918658182 Feb 12, 2016 (147)
38 GENOMED ss1966815240 Jul 19, 2016 (147)
39 JJLAB ss2019850590 Sep 14, 2016 (149)
40 USC_VALOUEV ss2147869340 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2164827012 Dec 20, 2016 (150)
42 TOPMED ss2327170980 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2624437085 Nov 08, 2017 (151)
44 ILLUMINA ss2632550706 Nov 08, 2017 (151)
45 GRF ss2697796123 Nov 08, 2017 (151)
46 GNOMAD ss2758361821 Nov 08, 2017 (151)
47 SWEGEN ss2987267721 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3023688748 Nov 08, 2017 (151)
49 TOPMED ss3084012209 Nov 08, 2017 (151)
50 CSHL ss3343585273 Nov 08, 2017 (151)
51 ILLUMINA ss3626160223 Oct 11, 2018 (152)
52 ILLUMINA ss3630585018 Oct 11, 2018 (152)
53 ILLUMINA ss3641605087 Oct 11, 2018 (152)
54 URBANLAB ss3646726469 Oct 11, 2018 (152)
55 EGCUT_WGS ss3655349137 Jul 12, 2019 (153)
56 EVA_DECODE ss3687321158 Jul 12, 2019 (153)
57 ACPOP ss3727293394 Jul 12, 2019 (153)
58 EVA ss3746546206 Jul 12, 2019 (153)
59 PACBIO ss3783490187 Jul 12, 2019 (153)
60 PACBIO ss3789136156 Jul 12, 2019 (153)
61 PACBIO ss3794008994 Jul 12, 2019 (153)
62 KHV_HUMAN_GENOMES ss3799548307 Jul 12, 2019 (153)
63 EVA ss3826315231 Apr 25, 2020 (154)
64 EVA ss3836547999 Apr 25, 2020 (154)
65 EVA ss3841955856 Apr 25, 2020 (154)
66 SGDP_PRJ ss3849430545 Apr 25, 2020 (154)
67 KRGDB ss3894502327 Apr 25, 2020 (154)
68 KOGIC ss3945048672 Apr 25, 2020 (154)
69 TOPMED ss4459814879 Apr 25, 2021 (155)
70 TOMMO_GENOMICS ss5145207259 Apr 25, 2021 (155)
71 1000Genomes NC_000001.10 - 96620589 Oct 11, 2018 (152)
72 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 96620589 Oct 11, 2018 (152)
73 Genetic variation in the Estonian population NC_000001.10 - 96620589 Oct 11, 2018 (152)
74 The Danish reference pan genome NC_000001.10 - 96620589 Apr 25, 2020 (154)
75 gnomAD - Genomes NC_000001.11 - 96155033 Apr 25, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000001.10 - 96620589 Apr 25, 2020 (154)
77 HapMap NC_000001.11 - 96155033 Apr 25, 2020 (154)
78 KOREAN population from KRGDB NC_000001.10 - 96620589 Apr 25, 2020 (154)
79 Korean Genome Project NC_000001.11 - 96155033 Apr 25, 2020 (154)
80 Northern Sweden NC_000001.10 - 96620589 Jul 12, 2019 (153)
81 Qatari NC_000001.10 - 96620589 Apr 25, 2020 (154)
82 SGDP_PRJ NC_000001.10 - 96620589 Apr 25, 2020 (154)
83 Siberian NC_000001.10 - 96620589 Apr 25, 2020 (154)
84 8.3KJPN NC_000001.10 - 96620589 Apr 25, 2021 (155)
85 TopMed NC_000001.11 - 96155033 Apr 25, 2021 (155)
86 UK 10K study - Twins NC_000001.10 - 96620589 Oct 11, 2018 (152)
87 A Vietnamese Genetic Variation Database NC_000001.10 - 96620589 Jul 12, 2019 (153)
88 ALFA NC_000001.11 - 96155033 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1679721, ss3894502327 NC_000001.10:96620588:G:A NC_000001.11:96155032:G:A (self)
ss78660125 NC_000001.8:96332609:G:T NC_000001.11:96155032:G:T (self)
ss108434561, ss110857965, ss163698368, ss164832956, ss166880404, ss205437536, ss275936962, ss290576160, ss482441231, ss1584834945 NC_000001.9:96393176:G:T NC_000001.11:96155032:G:T (self)
2773820, 1528003, 1087385, 1618847, 662280, 1679721, 578259, 700112, 1447525, 385694, 3176566, 1528003, 328781, ss218537039, ss230647612, ss238317091, ss484148874, ss536338492, ss554458723, ss648237946, ss780545131, ss782520153, ss836037059, ss975457635, ss1068110160, ss1292013429, ss1425904680, ss1574252601, ss1600765739, ss1643759772, ss1794777803, ss1918658182, ss1966815240, ss2019850590, ss2147869340, ss2327170980, ss2624437085, ss2632550706, ss2697796123, ss2758361821, ss2987267721, ss3343585273, ss3626160223, ss3630585018, ss3641605087, ss3655349137, ss3727293394, ss3746546206, ss3783490187, ss3789136156, ss3794008994, ss3826315231, ss3836547999, ss3849430545, ss3894502327, ss5145207259 NC_000001.10:96620588:G:T NC_000001.11:96155032:G:T (self)
19586861, 131676, 1426673, 14751541, 23421214, 13812376458, ss2164827012, ss3023688748, ss3084012209, ss3646726469, ss3687321158, ss3799548307, ss3841955856, ss3945048672, ss4459814879 NC_000001.11:96155032:G:T NC_000001.11:96155032:G:T (self)
ss18069705, ss19829353, ss20429244 NT_028050.13:4818410:G:T NC_000001.11:96155032:G:T (self)
ss41121909, ss99230671, ss142583868, ss155381423 NT_032977.9:66592506:G:T NC_000001.11:96155032:G: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 rs11165555

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