Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1431917892
rs1431917892
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		G 0.700 GeneticVariation CLINVAR Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013