Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555202126
rs1555202126
CEP290
C 0.700 GeneticVariation CLINVAR

dbSNP: rs376493409
rs376493409
CEP290
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205508
rs786205508
MKS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs886039791
rs886039791
TXNDC15
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039804
rs886039804
TMEM138
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886039805
rs886039805
CEP290
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039806
rs886039806
KIAA0586
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886039811
rs886039811
B9D1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1217691063
rs1217691063
MTHFR
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