Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912670
rs121912670
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 GeneticVariation UNIPROT Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006
dbSNP: rs121912670
rs121912670
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 GeneticVariation UNIPROT Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
dbSNP: rs121912670
rs121912670
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267606726
rs267606726
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606726
rs267606726
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs1553578312
rs1553578312
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs764266722
rs764266722
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs767503038
rs767503038
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C1854678
Disease:
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		C 0.700 CausalMutation CLINVAR