rs267606725, CHRNG

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple pterygium syndrome
CUI: C0265261
Disease: Multiple pterygium syndrome
0.700 CausalMutation CLINVAR Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006