rs104894145
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a complete combined 17-alpha-hydroxylase/17,20-lyase deficiency mutation |
(T;T) | 6.6 | Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 102830946 |
Gene | CYP17A1, CYP17A1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894145 |
dbSNP (classic) | rs104894145 |
ClinGen | rs104894145 |
ebi | rs104894145 |
HLI | rs104894145 |
Exac | rs104894145 |
Gnomad | rs104894145 |
Varsome | rs104894145 |
LitVar | rs104894145 |
Map | rs104894145 |
PheGenI | rs104894145 |
Biobank | rs104894145 |
1000 genomes | rs104894145 |
hgdp | rs104894145 |
ensembl | rs104894145 |
geneview | rs104894145 |
scholar | rs104894145 |
rs104894145 | |
pharmgkb | rs104894145 |
gwascentral | rs104894145 |
openSNP | rs104894145 |
23andMe | rs104894145 |
SNPshot | rs104894145 |
SNPdbe | rs104894145 |
MSV3d | rs104894145 |
GWAS Ctlg | rs104894145 |
Max Magnitude | 6.6 |
c.1283C>T (p.Pro428Leu)
23andMe name: i5001481
ClinVar | |
---|---|
Risk | Rs104894145(T;T) |
Alt | Rs104894145(T;T) |
Reference | Rs104894145(C;C) |
Significance | Pathogenic |
Disease | Complete combined 17-alpha-hydroxylase/17 |
Variation | info |
Gene | CYP17A1 |
CLNDBN | Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency |
Reversed | 1 |
HGVS | NC_000010.10:g.104590703G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001872.3, |