Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553262438
rs1553262438
GJC2
G 0.700 GeneticVariation CLINVAR Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease. 20513814

2010
dbSNP: rs1553262438
rs1553262438
GJC2
G 0.700 GeneticVariation CLINVAR GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. 18094336

2008