rs886043734
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Chromosome | 7 |
Position | 87417368 |
Gene | ABCB4 |
is a | snp |
is | mentioned by |
dbSNP | rs886043734 |
dbSNP (classic) | rs886043734 |
ClinGen | rs886043734 |
ebi | rs886043734 |
HLI | rs886043734 |
Exac | rs886043734 |
Gnomad | rs886043734 |
Varsome | rs886043734 |
LitVar | rs886043734 |
Map | rs886043734 |
PheGenI | rs886043734 |
Biobank | rs886043734 |
1000 genomes | rs886043734 |
hgdp | rs886043734 |
ensembl | rs886043734 |
geneview | rs886043734 |
scholar | rs886043734 |
rs886043734 | |
pharmgkb | rs886043734 |
gwascentral | rs886043734 |
openSNP | rs886043734 |
23andMe | rs886043734 |
SNPshot | rs886043734 |
SNPdbe | rs886043734 |
MSV3d | rs886043734 |
GWAS Ctlg | rs886043734 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043734(AT;AT) |
Alt | rs886043734(AT;AT) |
Reference | Rs886043734(TC;TC) |
Significance | Pathogenic |
Disease | Progressive familial intrahepatic cholestasis 3 |
Variation | info |
Gene | ABCB4 |
CLNDBN | Progressive familial intrahepatic cholestasis 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.87046684_87046685delTCinsAT |
CLNSRC | |
CLNACC | RCV000394729.1, |