Gene: POMT1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777819
rs587777819
POMT1
A 0.700 CausalMutation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007