rs1217691063, MTHFR

N. diseases: 614
Disease: Occipital Encephalocele ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Occipital Encephalocele
CUI: C0014067
Disease: Occipital Encephalocele
0.010 GeneticVariation BEFREE When evaluated by defect site, only defects involving the cervical-lumbar spine, lumbosacral spine, and occipital encephalocele were significantly less likely to be normal/normal than controls (P = 0.007, 0.0003, and 0.007, respectively), suggesting a strong association with the 677C-->T allele. 10602110 2000