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: rs312262818
rs312262818
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 CausalMutation CLINVAR Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 28289185 2017
dbSNP: rs312262818
rs312262818
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 CausalMutation CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008