Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747199032
rs747199032
CLTA ; GNE
A 0.700 CausalMutation CLINVAR GNE myopathy in India. 24005727

2014
dbSNP: rs747199032
rs747199032
CLTA ; GNE
A 0.700 CausalMutation CLINVAR Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. 22507750

2012