Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1558119445
rs1558119445
GJC2
TCA 0.700 GeneticVariation CLINVAR Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. 20513814

2010
dbSNP: rs1558119445
rs1558119445
GJC2
TCA 0.700 GeneticVariation CLINVAR GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. 18094336

2008
dbSNP: rs1558119445
rs1558119445
GJC2
TCA 0.700 GeneticVariation CLINVAR Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. 15192806

2004