Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193302865
rs193302865
Entrez Id: 30008;80198
Gene Symbol: EFEMP2;MUS81
EFEMP2;MUS81
CUI: C3280798
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB 		AGCGG 0.700 CausalMutation CLINVAR