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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs8192772

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr10:133531207 (GRCh38.p7) 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=0.09885 (12413/125568, TOPMED)
C=0.1023 (3163/30908, GnomAD)
C=0.178 (893/5008, 1000G) (+ 2 more)
C=0.076 (292/3854, ALSPAC)
C=0.081 (301/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CYP2E1 : Intron Variant
Publications
3 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.p7 chr 10 NC_000010.11:g.133531207T>C
GRCh37.p13 chr 10 NC_000010.10:g.135344711T>C
CYP2E1 RefSeqGene NG_008383.1:g.8845T>C
Gene: CYP2E1, cytochrome P450 family 2 subfamily E member 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CYP2E1 transcript NM_000773.3:c. 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
Trans-Omics for Precision Medicine Global Study-wide 125568 T=0.90115 C=0.09885
The Genome Aggregation Database Global Study-wide 30908 T=0.8977 C=0.1023
The Genome Aggregation Database European Sub 18472 T=0.9177 C=0.0823
The Genome Aggregation Database African Sub 8702 T=0.880 C=0.120
The Genome Aggregation Database East Asian Sub 1618 T=0.780 C=0.220
The Genome Aggregation Database Other Sub 978 T=0.88 C=0.12
The Genome Aggregation Database American Sub 836 T=0.89 C=0.11
The Genome Aggregation Database Ashkenazi Jewish Sub 302 T=0.89 C=0.11
1000Genomes Global Study-wide 5008 T=0.822 C=0.178
1000Genomes African Sub 1322 T=0.862 C=0.138
1000Genomes East Asian Sub 1008 T=0.738 C=0.262
1000Genomes Europe Sub 1006 T=0.922 C=0.078
1000Genomes South Asian Sub 978 T=0.71 C=0.29
1000Genomes American Sub 694 T=0.87 C=0.13
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.924 C=0.076
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.919 C=0.081
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 Note
GRCh38.p7 chr 10 NC_000010.11:g.133531207T= NC_000010.11:g.13353120...

NC_000010.11:g.133531207T>C

GRCh37.p13 chr 10 NC_000010.10:g.135344711T= NC_000010.10:g.13534471...

NC_000010.10:g.135344711T>C

CYP2E1 RefSeqGene NG_008383.1:g.8845T= NG_008383.1:g.8845T>C
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#.

5 Frequency, 79 SubSNP submissions
No Submitter Submission ID Date (Build)
1 RIKENSNPRC ss12587519 Aug 27, 2003 (117)
2 SI_EXO ss52082842 Oct 14, 2006 (127)
3 EGP_SNPS ss52974802 Oct 14, 2006 (127)
4 ILLUMINA ss67876452 Nov 29, 2006 (127)
5 ILLUMINA ss68019408 Nov 29, 2006 (127)
6 ILLUMINA ss68296607 Dec 12, 2006 (127)
7 PERLEGEN ss69097800 May 16, 2007 (127)
8 ILLUMINA ss70972860 May 26, 2008 (130)
9 ILLUMINA ss71584040 May 16, 2007 (127)
10 ILLUMINA ss75668418 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss84792650 Dec 15, 2007 (130)
12 ILLUMINA-UK ss119336311 Feb 15, 2009 (130)
13 ILLUMINA ss154471733 Dec 01, 2009 (131)
14 ILLUMINA ss159646269 Dec 01, 2009 (131)
15 ILLUMINA ss160954845 Dec 01, 2009 (131)
16 ILLUMINA ss174737686 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss174836215 Jul 04, 2010 (132)
18 BUSHMAN ss202249153 Jul 04, 2010 (132)
19 1000GENOMES ss211073214 Jul 14, 2010 (132)
20 1000GENOMES ss225041796 Jul 14, 2010 (132)
21 1000GENOMES ss235407873 Jul 15, 2010 (132)
22 1000GENOMES ss242070326 Jul 15, 2010 (132)
23 ILLUMINA ss244313075 Jul 04, 2010 (132)
24 GMI ss280844109 May 04, 2012 (137)
25 GMI ss286296552 Apr 25, 2013 (138)
26 ILLUMINA ss481798951 May 04, 2012 (137)
27 ILLUMINA ss481831386 May 04, 2012 (137)
28 ILLUMINA ss482793213 Sep 08, 2015 (146)
29 ILLUMINA ss485694129 May 04, 2012 (137)
30 ILLUMINA ss537561464 Sep 08, 2015 (146)
31 TISHKOFF ss562324970 Apr 25, 2013 (138)
32 SSMP ss657634195 Apr 25, 2013 (138)
33 ILLUMINA ss778999474 Sep 08, 2015 (146)
34 ILLUMINA ss783292643 Sep 08, 2015 (146)
35 ILLUMINA ss784245195 Sep 08, 2015 (146)
36 ILLUMINA ss832553911 Sep 08, 2015 (146)
37 ILLUMINA ss834461817 Sep 08, 2015 (146)
38 EVA-GONL ss988110248 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1077434967 Aug 21, 2014 (142)
40 1000GENOMES ss1339759417 Aug 21, 2014 (142)
41 HAMMER_LAB ss1397597300 Sep 08, 2015 (146)
42 DDI ss1426501745 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1575464173 Apr 01, 2015 (144)
44 EVA_DECODE ss1597789215 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1625813053 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1668807086 Apr 01, 2015 (144)
47 EVA_SVP ss1713226192 Apr 01, 2015 (144)
48 ILLUMINA ss1751957711 Sep 08, 2015 (146)
49 HAMMER_LAB ss1806650996 Sep 08, 2015 (146)
50 WEILL_CORNELL_DGM ss1931468891 Feb 12, 2016 (147)
51 ILLUMINA ss1959312200 Feb 12, 2016 (147)
52 JJLAB ss2026475070 Sep 14, 2016 (149)
53 USC_VALOUEV ss2154758256 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2179510827 Dec 20, 2016 (150)
55 TOPMED ss2342623866 Dec 20, 2016 (150)
56 ILLUMINA ss2632788404 Nov 08, 2017 (151)
57 ILLUMINA ss2635021919 Nov 08, 2017 (151)
58 GRF ss2699023341 Nov 08, 2017 (151)
59 ILLUMINA ss2710726250 Nov 08, 2017 (151)
60 GNOMAD ss2895306313 Nov 08, 2017 (151)
61 AFFY ss2985576238 Nov 08, 2017 (151)
62 SWEGEN ss3007433592 Nov 08, 2017 (151)
63 ILLUMINA ss3021294545 Nov 08, 2017 (151)
64 TOPMED ss3134813598 Nov 08, 2017 (151)
65 CSHL ss3349401361 Nov 08, 2017 (151)
66 ILLUMINA ss3626577460 Jul 20, 2018 (151)
67 ILLUMINA ss3630809019 Jul 20, 2018 (151)
68 ILLUMINA ss3632971896 Jul 20, 2018 (151)
69 ILLUMINA ss3633670225 Jul 20, 2018 (151)
70 ILLUMINA ss3634433572 Jul 20, 2018 (151)
71 ILLUMINA ss3635362209 Jul 20, 2018 (151)
72 ILLUMINA ss3636118835 Jul 20, 2018 (151)
73 ILLUMINA ss3637112984 Jul 20, 2018 (151)
74 ILLUMINA ss3637884835 Jul 20, 2018 (151)
75 ILLUMINA ss3638957922 Jul 20, 2018 (151)
76 ILLUMINA ss3639790231 Jul 20, 2018 (151)
77 ILLUMINA ss3640140913 Jul 20, 2018 (151)
78 ILLUMINA ss3642885216 Jul 20, 2018 (151)
79 ILLUMINA ss3643842617 Jul 20, 2018 (151)
80 1000Genomes NC_000010.10 - 135344711 Jul 20, 2018 (151)
81 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 135344711 Jul 20, 2018 (151)
82 The Genome Aggregation Database NC_000010.10 - 135344711 Jul 20, 2018 (151)
83 Trans-Omics for Precision Medicine NC_000010.11 - 133531207 Jul 20, 2018 (151)
84 UK 10K study - Twins NC_000010.10 - 135344711 Jul 20, 2018 (151)
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)
rs60482238 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3638957922, ss3639790231, ss3643842617 NC_000010.8:135233591:T= NC_000010.11:133531206:T=
ss119336311, ss174836215, ss202249153, ss211073214, ss280844109, ss286296552, ss481798951, ss1397597300, ss1597789215, ss1713226192, ss2635021919, ss3642885216 NC_000010.9:135194700:T= NC_000010.11:133531206:T= (self)
52230109, 29022049, 29007834, 29022049, ss225041796, ss235407873, ss242070326, ss481831386, ss482793213, ss485694129, ss537561464, ss562324970, ss657634195, ss778999474, ss783292643, ss784245195, ss832553911, ss834461817, ss988110248, ss1077434967, ss1339759417, ss1426501745, ss1575464173, ss1625813053, ss1668807086, ss1751957711, ss1806650996, ss1931468891, ss1959312200, ss2026475070, ss2154758256, ss2342623866, ss2632788404, ss2699023341, ss2710726250, ss2895306313, ss2985576238, ss3007433592, ss3021294545, ss3349401361, ss3626577460, ss3630809019, ss3632971896, ss3633670225, ss3634433572, ss3635362209, ss3636118835, ss3637112984, ss3637884835, ss3640140913 NC_000010.10:135344710:T= NC_000010.11:133531206:T= (self)
55169457, ss2179510827, ss3134813598 NC_000010.11:133531206:T= NC_000010.11:133531206:T= (self)
ss12587519, ss52974802, ss67876452, ss68019408, ss68296607, ss69097800, ss70972860, ss71584040, ss75668418, ss84792650, ss154471733, ss159646269, ss160954845, ss174737686, ss244313075 NT_008818.16:6578641:T= NC_000010.11:133531206:T= (self)
ss52082842 NT_017795.17:500289:T= NC_000010.11:133531206:T= (self)
ss3638957922, ss3639790231, ss3643842617 NC_000010.8:135233591:T>C NC_000010.11:133531206:T>C
ss119336311, ss174836215, ss202249153, ss211073214, ss280844109, ss286296552, ss481798951, ss1397597300, ss1597789215, ss1713226192, ss2635021919, ss3642885216 NC_000010.9:135194700:T>C NC_000010.11:133531206:T>C (self)
52230109, 29022049, 29007834, 29022049, ss225041796, ss235407873, ss242070326, ss481831386, ss482793213, ss485694129, ss537561464, ss562324970, ss657634195, ss778999474, ss783292643, ss784245195, ss832553911, ss834461817, ss988110248, ss1077434967, ss1339759417, ss1426501745, ss1575464173, ss1625813053, ss1668807086, ss1751957711, ss1806650996, ss1931468891, ss1959312200, ss2026475070, ss2154758256, ss2342623866, ss2632788404, ss2699023341, ss2710726250, ss2895306313, ss2985576238, ss3007433592, ss3021294545, ss3349401361, ss3626577460, ss3630809019, ss3632971896, ss3633670225, ss3634433572, ss3635362209, ss3636118835, ss3637112984, ss3637884835, ss3640140913 NC_000010.10:135344710:T>C NC_000010.11:133531206:T>C (self)
55169457, ss2179510827, ss3134813598 NC_000010.11:133531206:T>C NC_000010.11:133531206:T>C (self)
ss12587519, ss52974802, ss67876452, ss68019408, ss68296607, ss69097800, ss70972860, ss71584040, ss75668418, ss84792650, ss154471733, ss159646269, ss160954845, ss174737686, ss244313075 NT_008818.16:6578641:T>C NC_000010.11:133531206:T>C (self)
ss52082842 NT_017795.17:500289:T>C NC_000010.11:133531206: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.

3 citations for rs8192772
PMID Title Author Year Journal
21281483 Single-nucleotide polymorphisms and haplotype of CYP2E1 gene associated with systemic lupus erythematosus in Chinese population. Liao LH et al. 2011 Arthritis research & therapy
21940907 Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer. Hakenewerth AM et al. 2011 Cancer epidemiology, biomarkers & prevention
23632049 Effects of polymorphisms in alcohol metabolism and oxidative stress genes on survival from head and neck cancer. Hakenewerth AM et al. 2013 Cancer epidemiology

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: 0.1.4.post833+d3ba21e