Gene: ALG14-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769114543
rs769114543
ALG14 ; ALG14-AS1
T 0.700 GeneticVariation CLINVAR Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 28733338

2017
dbSNP: rs730882050
rs730882050
ALG14 ; ALG14-AS1
A 0.700 CausalMutation CLINVAR