Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel retinal findings in an infant with muscle-eye-brain disease. 25390965

2012
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 21361872

2011
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 17906881

2007
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR POMGnT1 gene alterations in a family with neurological abnormalities. 15236414

2004