Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045642
rs1045642
ABCB1
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.010 GeneticVariation BEFREE This study demonstrated that variations in the C3435T gene play an important role in the pathogenesis of infantile spasms in the Han Chinese population; 3435TT is associated with increased risk of having this epilepsy syndrome. 22033938

2011