Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148467625
rs148467625
0.010 GeneticVariation BEFREE In conclusion, the novel variant c.263T>C (p.I88T) in this study enriched the <i>SLC10A1</i> mutation spectrum; the clinical findings lent support to the primary role of NTCP in hepatic bile acid clearance, and suggested that NTCP deficiency might be a contributing factor for the development of neonatal indirect hyperbilirubinemia. 29290974

2017