Gene: ABCB11 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908935
rs121908935
ABCB11
0.810 GeneticVariation UNIPROT The intron 4 (+3)A > C, R930X and R432T represent previously undescribed mutations of the ABCB11 gene that confer a PFIC2 and a BRIC2 phenotype, respectively. 16039748

2005
dbSNP: rs121908935
rs121908935
ABCB11
0.810 GeneticVariation UNIPROT Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 15300568

2004
dbSNP: rs72549398
rs72549398
ABCB11
0.700 GeneticVariation UNIPROT Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 16039748

2005
dbSNP: rs72549400
rs72549400
ABCB11
0.700 GeneticVariation UNIPROT Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 16039748

2005
dbSNP: rs72551307
rs72551307
ABCB11
0.700 GeneticVariation UNIPROT Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 16039748

2005
dbSNP: rs756220860
rs756220860
ABCB11
0.700 GeneticVariation UNIPROT Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 16039748

2005
dbSNP: rs777469571
rs777469571
ABCB11
0.700 GeneticVariation UNIPROT Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis. 16039748

2005
dbSNP: rs72549398
rs72549398
ABCB11
0.700 GeneticVariation UNIPROT Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 15300568

2004
dbSNP: rs72549400
rs72549400
ABCB11
0.700 GeneticVariation UNIPROT Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 15300568

2004
dbSNP: rs72551307
rs72551307
ABCB11
0.700 GeneticVariation UNIPROT Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 15300568

2004
dbSNP: rs756220860
rs756220860
ABCB11
0.700 GeneticVariation UNIPROT Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 15300568

2004
dbSNP: rs777469571
rs777469571
ABCB11
0.700 GeneticVariation UNIPROT Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 15300568

2004
dbSNP: rs886043807
rs886043807
ABCB11
0.700 GeneticVariation UNIPROT