rs886043511
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Chromosome | 16 |
Position | 30987963 |
Gene | HSD3B7 |
is a | snp |
is | mentioned by |
dbSNP | rs886043511 |
dbSNP (classic) | rs886043511 |
ClinGen | rs886043511 |
ebi | rs886043511 |
HLI | rs886043511 |
Exac | rs886043511 |
Gnomad | rs886043511 |
Varsome | rs886043511 |
LitVar | rs886043511 |
Map | rs886043511 |
PheGenI | rs886043511 |
Biobank | rs886043511 |
1000 genomes | rs886043511 |
hgdp | rs886043511 |
ensembl | rs886043511 |
geneview | rs886043511 |
scholar | rs886043511 |
rs886043511 | |
pharmgkb | rs886043511 |
gwascentral | rs886043511 |
openSNP | rs886043511 |
23andMe | rs886043511 |
SNPshot | rs886043511 |
SNPdbe | rs886043511 |
MSV3d | rs886043511 |
GWAS Ctlg | rs886043511 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043511(-;-) |
Alt | rs886043511(-;-) |
Reference | Rs886043511(T;T) |
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.30999284delT |
CLNSRC | |
CLNACC | RCV000307810.1, |