rs1188383936, F2

N. diseases: 102
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Homocysteinemia
CUI: C3495426
Disease: Homocysteinemia
0.010 GeneticVariation BEFREE The proband's 69-year-old father, with NAION and ischemic stroke, had PTG heterozygosity, familial high factor VIII, and compound MTHFR C677T-A1298C mutation with homocysteinemia. 18796459 2009