rs387906527
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906527(-;-) |
Make rs387906527(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 87439686 |
Gene | ABCB4 |
is a | snp |
is | mentioned by |
dbSNP | rs387906527 |
dbSNP (classic) | rs387906527 |
ClinGen | rs387906527 |
ebi | rs387906527 |
HLI | rs387906527 |
Exac | rs387906527 |
Gnomad | rs387906527 |
Varsome | rs387906527 |
LitVar | rs387906527 |
Map | rs387906527 |
PheGenI | rs387906527 |
Biobank | rs387906527 |
1000 genomes | rs387906527 |
hgdp | rs387906527 |
ensembl | rs387906527 |
geneview | rs387906527 |
scholar | rs387906527 |
rs387906527 | |
pharmgkb | rs387906527 |
gwascentral | rs387906527 |
openSNP | rs387906527 |
23andMe | rs387906527 |
SNPshot | rs387906527 |
SNPdbe | rs387906527 |
MSV3d | rs387906527 |
GWAS Ctlg | rs387906527 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906527(-;-) |
Alt | rs387906527(-;-) |
Reference | Rs387906527(T;T) |
Significance | Pathogenic |
Disease | Progressive familial intrahepatic cholestasis 3 Cholestasis |
Variation | info |
Gene | ABCB4 |
CLNDBN | Progressive familial intrahepatic cholestasis 3 Cholestasis, intrahepatic, of pregnancy 3 |
Reversed | 1 |
HGVS | NC_000007.13:g.87069002delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014685.20, RCV000033064.26, |