Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768407867
rs768407867
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. 27748205

2017
dbSNP: rs768407867
rs768407867
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. 24121633

2013