rs730880305
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880305(A;A) |
Make rs730880305(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 96244395 |
Gene | HSD17B3, LOC105376162 |
is a | snp |
is | mentioned by |
dbSNP | rs730880305 |
dbSNP (classic) | rs730880305 |
ClinGen | rs730880305 |
ebi | rs730880305 |
HLI | rs730880305 |
Exac | rs730880305 |
Gnomad | rs730880305 |
Varsome | rs730880305 |
LitVar | rs730880305 |
Map | rs730880305 |
PheGenI | rs730880305 |
Biobank | rs730880305 |
1000 genomes | rs730880305 |
hgdp | rs730880305 |
ensembl | rs730880305 |
geneview | rs730880305 |
scholar | rs730880305 |
rs730880305 | |
pharmgkb | rs730880305 |
gwascentral | rs730880305 |
openSNP | rs730880305 |
23andMe | rs730880305 |
SNPshot | rs730880305 |
SNPdbe | rs730880305 |
MSV3d | rs730880305 |
GWAS Ctlg | rs730880305 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880305(A;A) |
Alt | rs730880305(A;A) |
Reference | Rs730880305(G;G) |
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.99006677C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005154.3, |