rs915909
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal |
(C;T) | carrier of one CYP2E1_6498C>T(I321I) allele | |
(G;G) | 0 | |
(T;T) | 0 | CYP2E1_6498C>T(I321I) homozygote |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 133533893 |
Gene | CYP2E1 |
is a | snp |
is | mentioned by |
dbSNP | rs915909 |
dbSNP (classic) | rs915909 |
ClinGen | rs915909 |
ebi | rs915909 |
HLI | rs915909 |
Exac | rs915909 |
Gnomad | rs915909 |
Varsome | rs915909 |
LitVar | rs915909 |
Map | rs915909 |
PheGenI | rs915909 |
Biobank | rs915909 |
1000 genomes | rs915909 |
hgdp | rs915909 |
ensembl | rs915909 |
geneview | rs915909 |
scholar | rs915909 |
rs915909 | |
pharmgkb | rs915909 |
gwascentral | rs915909 |
openSNP | rs915909 |
23andMe | rs915909 |
SNPshot | rs915909 |
SNPdbe | rs915909 |
MSV3d | rs915909 |
GWAS Ctlg | rs915909 |
GMAF | 0.02663 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
rs915909 is a SNP in the CYP2E1 gene.
The rs915909(T) allele defines the CYP2E1_6498C>T(I321I) variant.
[PMID 18663376] Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.
ClinVar | |
---|---|
Risk | Rs915909(C;C) |
Alt | Rs915909(C;C) |
Reference | Rs915909(T;T) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | CYP2E1 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000010.10:g.135347397T>C |
CLNSRC | |
CLNACC | RCV000455117.1, |