Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs312262890
rs312262890
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1846175
Disease:
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		GAAGA 0.700 CausalMutation CLINVAR