RS61730509 ABCB4
Upload your DNA to see your genotype for this variant.
What This Variant Does
"CLNSIG=4
Associated Conditions
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 3
Cholestasis
intrahepatic
of pregnancy
3
See cases
Severe early-childhood-onset retinal dystrophy
ABCB4-related disorder
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 3
Cholestasis
intrahepatic
of pregnancy
3
GWAS Studies (8)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Alanine transaminase (ALT, mean, inv-norm transformed) | C | OR: 0.3 | 4E-55 | PubMed |
| Alanine transaminase (ALT, mean, inv-norm transformed) | C | OR: 0.3 | 1E-50 | PubMed |
| Alanine transaminase (ALT, minimum, inv-norm transformed) | C | OR: 0.27 | 3E-46 | PubMed |
| Alanine transaminase (ALT, minimum, inv-norm transformed) | C | OR: 0.27 | 5E-43 | PubMed |
| Alanine transaminase (ALT, maximum, inv-norm transformed) | C | OR: 0.26 | 6E-43 | PubMed |
| Alanine transaminase (ALT, maximum, inv-norm transformed) | C | OR: 0.27 | 7E-41 | PubMed |
| Aspartate aminotransferase (AST, mean, inv-norm transformed) | C | OR: 0.18 | 2E-18 | PubMed |
| Aspartate aminotransferase (AST, maximum, inv-norm transformed) | C | OR: 0.16 | 7E-16 | PubMed |
Other Variants in ABCB4