RS11568372 ABCB11

Health Risk Chr 2:168990819
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What This Variant Does
"[OMIM:CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2]
Associated Conditions
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2
Cholestasis
intrahepatic
of pregnancy
3
ABCB11-related disorder
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 2
Cholestasis
intrahepatic
of pregnancy
3
GWAS Studies (2)
Trait Risk Allele OR / Beta P-value Study
Serum alkaline phosphatase levels — OR: 0.41 6E-15 PubMed
Serum alkaline phosphatase levels C OR: 0.43 9E-11 PubMed
Other Variants in ABCB11
rs72549401 rs1553469602 rs387907317 rs387906354 rs752919965 rs121908935 rs72549397 rs183406496 rs150572999 rs183390670
Ask Dr. Hemsworth about this variant