Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912670
rs121912670
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		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
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		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
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs267606726
rs267606726
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs267606726
rs267606726
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		0.800 GeneticVariation UNIPROT

dbSNP: rs121912671
rs121912671
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121912672
rs121912672
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs267606725
rs267606725
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		T 0.700 CausalMutation CLINVAR Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520

2006
dbSNP: rs747067203
rs747067203
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		C 0.700 CausalMutation CLINVAR Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531

2006
dbSNP: rs764266722
rs764266722
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs765746795
rs765746795
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs767503038
rs767503038
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs774279192
rs774279192
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs863223313
rs863223313
CHRNG
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		TGAGGGTGCC 0.700 CausalMutation CLINVAR