Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994102
rs113994102
CTDP1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. 16194727

2005