Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909506
rs121909506
CHRND
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 GeneticVariation UNIPROT Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226

2008
dbSNP: rs121909506
rs121909506
CHRND
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		C 0.800 CausalMutation CLINVAR