Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834039
rs386834039
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691

2012
dbSNP: rs386834039
rs386834039
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669

2006