rs121912979
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912979(C;T) |
Make rs121912979(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 142914404 |
Gene | CYP11B2 |
is a | snp |
is | mentioned by |
dbSNP | rs121912979 |
dbSNP (classic) | rs121912979 |
ClinGen | rs121912979 |
ebi | rs121912979 |
HLI | rs121912979 |
Exac | rs121912979 |
Gnomad | rs121912979 |
Varsome | rs121912979 |
LitVar | rs121912979 |
Map | rs121912979 |
PheGenI | rs121912979 |
Biobank | rs121912979 |
1000 genomes | rs121912979 |
hgdp | rs121912979 |
ensembl | rs121912979 |
geneview | rs121912979 |
scholar | rs121912979 |
rs121912979 | |
pharmgkb | rs121912979 |
gwascentral | rs121912979 |
openSNP | rs121912979 |
23andMe | rs121912979 |
SNPshot | rs121912979 |
SNPdbe | rs121912979 |
MSV3d | rs121912979 |
GWAS Ctlg | rs121912979 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912979(T;T) |
Alt | rs121912979(T;T) |
Reference | Rs121912979(C;C) |
Significance | Pathogenic |
Disease | Corticosterone methyloxidase type 2 deficiency |
Variation | info |
Gene | CYP11B2 |
CLNDBN | Corticosterone methyloxidase type 2 deficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.143995820G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018382.27, |