rs747329682
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs747329682(A;A) |
Make rs747329682(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 96298423 |
Gene | HSD17B3 |
is a | snp |
is | mentioned by |
dbSNP | rs747329682 |
dbSNP (classic) | rs747329682 |
ClinGen | rs747329682 |
ebi | rs747329682 |
HLI | rs747329682 |
Exac | rs747329682 |
Gnomad | rs747329682 |
Varsome | rs747329682 |
LitVar | rs747329682 |
Map | rs747329682 |
PheGenI | rs747329682 |
Biobank | rs747329682 |
1000 genomes | rs747329682 |
hgdp | rs747329682 |
ensembl | rs747329682 |
geneview | rs747329682 |
scholar | rs747329682 |
rs747329682 | |
pharmgkb | rs747329682 |
gwascentral | rs747329682 |
openSNP | rs747329682 |
23andMe | rs747329682 |
SNPshot | rs747329682 |
SNPdbe | rs747329682 |
MSV3d | rs747329682 |
GWAS Ctlg | rs747329682 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747329682(A;A) |
Alt | rs747329682(A;A) |
Reference | Rs747329682(G;G) |
Significance | Probable-Pathogenic |
Disease | Testosterone 17-beta-dehydrogenase deficiency |
Variation | info |
Gene | HSD17B3 |
CLNDBN | Testosterone 17-beta-dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000009.11:g.99060705G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000198988.1, |