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: C0265261
Disease:
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
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: C0265261
Disease:
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
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0265261
Disease:
Multiple pterygium syndrome 		T 0.800 CausalMutation CLINVAR
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: C0265261
Disease:
Multiple pterygium syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606726
rs267606726
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0265261
Disease:
Multiple pterygium syndrome 		0.800 GeneticVariation UNIPROT
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: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. 27245440 2016
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. 27245440 2016
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 25957469 2015
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. 25957469 2015
dbSNP: rs1881492
rs1881492
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0034951
Disease:
Refractive Errors 		T 0.700 GeneticVariation GWASDB Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
dbSNP: rs1881492
rs1881492
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C4025843
Disease:
Abnormality of refraction 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. 23396134 2013
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR Neuromotor synapses in Escobar syndrome. 24038971 2013
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Neuromotor synapses in Escobar syndrome. 24038971 2013
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0432072
Disease:
Dysmorphic features 		AC 0.700 CausalMutation CLINVAR CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 22167768 2012
dbSNP: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 22167768 2012
dbSNP: rs267606725
rs267606725
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0265261
Disease:
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
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0265261
Disease:
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: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 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: rs797044677
rs797044677
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0432072
Disease:
Dysmorphic features 		AC 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
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
CUI: C0265261
Disease:
Multiple pterygium syndrome 		T 0.700 CausalMutation CLINVAR