rs119481075
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs119481075(A;A) |
Make rs119481075(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 96254906 |
Gene | HSD17B3, LOC105376162 |
is a | snp |
is | mentioned by |
dbSNP | rs119481075 |
dbSNP (classic) | rs119481075 |
ClinGen | rs119481075 |
ebi | rs119481075 |
HLI | rs119481075 |
Exac | rs119481075 |
Gnomad | rs119481075 |
Varsome | rs119481075 |
LitVar | rs119481075 |
Map | rs119481075 |
PheGenI | rs119481075 |
Biobank | rs119481075 |
1000 genomes | rs119481075 |
hgdp | rs119481075 |
ensembl | rs119481075 |
geneview | rs119481075 |
scholar | rs119481075 |
rs119481075 | |
pharmgkb | rs119481075 |
gwascentral | rs119481075 |
openSNP | rs119481075 |
23andMe | rs119481075 |
SNPshot | rs119481075 |
SNPdbe | rs119481075 |
MSV3d | rs119481075 |
GWAS Ctlg | rs119481075 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119481075(A;A) |
Alt | rs119481075(A;A) |
Reference | Rs119481075(G;G) |
Significance | Pathogenic |
Disease | Testosterone 17-beta-dehydrogenase deficiency not provided |
Variation | info |
Gene | HSD17B3 |
CLNDBN | Testosterone 17-beta-dehydrogenase deficiency not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.99017188C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005150.2, RCV000198988.1, RCV000255553.1, |