Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 GeneticVariation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 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: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 GeneticVariation CLINVAR Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 19067344

2008
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 GeneticVariation CLINVAR POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669

2006
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 GeneticVariation CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003

2004
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR