rs119481074
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs119481074(A;G) |
Make rs119481074(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 96240877 |
Gene | HSD17B3 |
is a | snp |
is | mentioned by |
dbSNP | rs119481074 |
dbSNP (classic) | rs119481074 |
ClinGen | rs119481074 |
ebi | rs119481074 |
HLI | rs119481074 |
Exac | rs119481074 |
Gnomad | rs119481074 |
Varsome | rs119481074 |
LitVar | rs119481074 |
Map | rs119481074 |
PheGenI | rs119481074 |
Biobank | rs119481074 |
1000 genomes | rs119481074 |
hgdp | rs119481074 |
ensembl | rs119481074 |
geneview | rs119481074 |
scholar | rs119481074 |
rs119481074 | |
pharmgkb | rs119481074 |
gwascentral | rs119481074 |
openSNP | rs119481074 |
23andMe | rs119481074 |
SNPshot | rs119481074 |
SNPdbe | rs119481074 |
MSV3d | rs119481074 |
GWAS Ctlg | rs119481074 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119481074(G;G) |
Alt | rs119481074(G;G) |
Reference | Rs119481074(A;A) |
Significance | Pathogenic |
Disease | Testosterone 17-beta-dehydrogenase deficiency |
Variation | info |
Gene | HSD17B3 |
CLNDBN | Testosterone 17-beta-dehydrogenase deficiency |
Reversed | 1 |
HGVS | NC_000009.11:g.99003159T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005149.3, |