Gene: CHRNG ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912670
rs121912670
CHRNG
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
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
T 0.800 CausalMutation CLINVAR

dbSNP: rs267606726
rs267606726
CHRNG
G 0.800 CausalMutation CLINVAR

dbSNP: rs267606726
rs267606726
CHRNG
0.800 GeneticVariation UNIPROT

dbSNP: rs267606725
rs267606725
CHRNG
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
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: rs121912671
rs121912671
CHRNG
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912672
rs121912672
CHRNG
T 0.700 CausalMutation CLINVAR

dbSNP: rs764266722
rs764266722
CHRNG
T 0.700 CausalMutation CLINVAR

dbSNP: rs765746795
rs765746795
CHRNG
G 0.700 CausalMutation CLINVAR

dbSNP: rs767503038
rs767503038
CHRNG
C 0.700 CausalMutation CLINVAR

dbSNP: rs774279192
rs774279192
CHRNG
CA 0.700 CausalMutation CLINVAR

dbSNP: rs863223313
rs863223313
CHRNG
TGAGGGTGCC 0.700 CausalMutation CLINVAR