rs61754278
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61754278(A;A) |
Make rs61754278(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 102832610 |
Gene | CYP17A1, CYP17A1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs61754278 |
dbSNP (classic) | rs61754278 |
ClinGen | rs61754278 |
ebi | rs61754278 |
HLI | rs61754278 |
Exac | rs61754278 |
Gnomad | rs61754278 |
Varsome | rs61754278 |
LitVar | rs61754278 |
Map | rs61754278 |
PheGenI | rs61754278 |
Biobank | rs61754278 |
1000 genomes | rs61754278 |
hgdp | rs61754278 |
ensembl | rs61754278 |
geneview | rs61754278 |
scholar | rs61754278 |
rs61754278 | |
pharmgkb | rs61754278 |
gwascentral | rs61754278 |
openSNP | rs61754278 |
23andMe | rs61754278 |
SNPshot | rs61754278 |
SNPdbe | rs61754278 |
MSV3d | rs61754278 |
GWAS Ctlg | rs61754278 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754278(A;A) |
Alt | rs61754278(A;A) |
Reference | Rs61754278(G;G) |
Significance | Pathogenic |
Disease | Isolated 17 Deficiency of steroid 17-alpha-monooxygenase |
Variation | info |
Gene | CYP17A1 |
CLNDBN | Isolated 17,20-lyase deficiency Deficiency of steroid 17-alpha-monooxygenase |
Reversed | 1 |
HGVS | NC_000010.10:g.104592367C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001860.4, RCV000185577.2, |