rs556794126
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs556794126(-;GGAT) |
Make rs556794126(GGAT;GGAT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 102830790 |
Gene | CYP17A1, CYP17A1-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs556794126 |
dbSNP (classic) | rs556794126 |
ClinGen | rs556794126 |
ebi | rs556794126 |
HLI | rs556794126 |
Exac | rs556794126 |
Gnomad | rs556794126 |
Varsome | rs556794126 |
LitVar | rs556794126 |
Map | rs556794126 |
PheGenI | rs556794126 |
Biobank | rs556794126 |
1000 genomes | rs556794126 |
hgdp | rs556794126 |
ensembl | rs556794126 |
geneview | rs556794126 |
scholar | rs556794126 |
rs556794126 | |
pharmgkb | rs556794126 |
gwascentral | rs556794126 |
openSNP | rs556794126 |
23andMe | rs556794126 |
SNPshot | rs556794126 |
SNPdbe | rs556794126 |
MSV3d | rs556794126 |
GWAS Ctlg | rs556794126 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs556794126(GGAT;GGAT) |
Alt | rs556794126(GGAT;GGAT) |
Reference | Rs556794126(-;-) |
Significance | Pathogenic |
Disease | Complete combined 17-alpha-hydroxylase/17 Congenital adrenal hyperplasia |
Variation | info |
Gene | CYP17A1 |
CLNDBN | Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Congenital adrenal hyperplasia |
Reversed | 0 |
HGVS | NC_000010.10:g.104590548_104590551dupGGAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001849.3, RCV000337017.1, |