rs786200876
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs786200876(-;-) |
Make rs786200876(-;AG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 30985703 |
Gene | HSD3B7 |
is a | snp |
is | mentioned by |
dbSNP | rs786200876 |
dbSNP (classic) | rs786200876 |
ClinGen | rs786200876 |
ebi | rs786200876 |
HLI | rs786200876 |
Exac | rs786200876 |
Gnomad | rs786200876 |
Varsome | rs786200876 |
LitVar | rs786200876 |
Map | rs786200876 |
PheGenI | rs786200876 |
Biobank | rs786200876 |
1000 genomes | rs786200876 |
hgdp | rs786200876 |
ensembl | rs786200876 |
geneview | rs786200876 |
scholar | rs786200876 |
rs786200876 | |
pharmgkb | rs786200876 |
gwascentral | rs786200876 |
openSNP | rs786200876 |
23andMe | rs786200876 |
SNPshot | rs786200876 |
SNPdbe | rs786200876 |
MSV3d | rs786200876 |
GWAS Ctlg | rs786200876 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200876(-;-) |
Alt | rs786200876(-;-) |
Reference | Rs786200876(AG;AG) |
Significance | Pathogenic |
Disease | Bile acid synthesis defect |
Variation | info |
Gene | HSD3B7 |
CLNDBN | Bile acid synthesis defect, congenital, 1 |
Reversed | 0 |
HGVS | NC_000016.9:g.30997024_30997025delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003019.3, |