rs104894067
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894067(A;C) |
Make rs104894067(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 142877221 |
Gene | CYP11B1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894067 |
dbSNP (classic) | rs104894067 |
ClinGen | rs104894067 |
ebi | rs104894067 |
HLI | rs104894067 |
Exac | rs104894067 |
Gnomad | rs104894067 |
Varsome | rs104894067 |
LitVar | rs104894067 |
Map | rs104894067 |
PheGenI | rs104894067 |
Biobank | rs104894067 |
1000 genomes | rs104894067 |
hgdp | rs104894067 |
ensembl | rs104894067 |
geneview | rs104894067 |
scholar | rs104894067 |
rs104894067 | |
pharmgkb | rs104894067 |
gwascentral | rs104894067 |
openSNP | rs104894067 |
23andMe | rs104894067 |
SNPshot | rs104894067 |
SNPdbe | rs104894067 |
MSV3d | rs104894067 |
GWAS Ctlg | rs104894067 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894067(C;C) rs104894067(G;G) |
Alt | rs104894067(C;C) rs104894067(G;G) |
Reference | Rs104894067(A;A) |
Significance | Pathogenic |
Disease | Deficiency of steroid 11-beta-monooxygenase |
Variation | info |
Gene | CYP11B1 |
CLNDBN | Deficiency of steroid 11-beta-monooxygenase |
Reversed | 1 |
HGVS | NC_000008.10:g.143958637T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001236.2, |