Gene: ABCB11 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72549395
rs72549395
ABCB11
0.800 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679

2014
dbSNP: rs72549402
rs72549402
ABCB11
0.800 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679

2014
dbSNP: rs72549395
rs72549395
ABCB11
0.800 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775

2002
dbSNP: rs72549402
rs72549402
ABCB11
0.800 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775

2002
dbSNP: rs72549395
rs72549395
ABCB11
0.800 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978

1999
dbSNP: rs72549402
rs72549402
ABCB11
0.800 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978

1999
dbSNP: rs72549395
rs72549395
ABCB11
0.800 GeneticVariation UNIPROT A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540

1998
dbSNP: rs72549402
rs72549402
ABCB11
0.800 GeneticVariation UNIPROT A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540

1998
dbSNP: rs369860506
rs369860506
ABCB11
0.700 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679

2014
dbSNP: rs72549394
rs72549394
ABCB11
0.700 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679

2014
dbSNP: rs72549399
rs72549399
ABCB11
0.700 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679

2014
dbSNP: rs72551305
rs72551305
ABCB11
0.700 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679

2014
dbSNP: rs72551306
rs72551306
ABCB11
0.700 GeneticVariation UNIPROT Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. 24969679

2014
dbSNP: rs369860506
rs369860506
ABCB11
0.700 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775

2002
dbSNP: rs72549394
rs72549394
ABCB11
0.700 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775

2002
dbSNP: rs72549399
rs72549399
ABCB11
0.700 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775

2002
dbSNP: rs72551305
rs72551305
ABCB11
0.700 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775

2002
dbSNP: rs72551306
rs72551306
ABCB11
0.700 GeneticVariation UNIPROT FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775

2002
dbSNP: rs369860506
rs369860506
ABCB11
0.700 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978

1999
dbSNP: rs72549394
rs72549394
ABCB11
0.700 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978

1999
dbSNP: rs72549399
rs72549399
ABCB11
0.700 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978

1999
dbSNP: rs72551305
rs72551305
ABCB11
0.700 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978

1999
dbSNP: rs72551306
rs72551306
ABCB11
0.700 GeneticVariation UNIPROT Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. 10579978

1999
dbSNP: rs369860506
rs369860506
ABCB11
0.700 GeneticVariation UNIPROT A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540

1998
dbSNP: rs72549394
rs72549394
ABCB11
0.700 GeneticVariation UNIPROT A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540

1998