Disease: Familial aplasia of the vermis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044945
rs797044945
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
dbSNP: rs797044945
rs797044945
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. 23036093 2013