Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1293340864
rs1293340864
KIFBP
T 0.700 CausalMutation CLINVAR Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. 28277559

2017