Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909254
rs121909254
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 GeneticVariation CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612

2009
dbSNP: rs121909254
rs121909254
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 GeneticVariation CLINVAR Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007