rs202676, FOLH1

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tonometry
CUI: C0040420
Disease: Tonometry
0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
Height
CUI: C0489786
Disease: Height
0.700 GeneticVariation GWASDB Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 21194676 2011
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
0.010 GeneticVariation BEFREE Genotype and allele frequency analysis of these SNPs revealed that, rs1801133 (p.Ala222Val) was significantly associated with NTDs risk (p value = 0.028; odds ratio-2.31; 95% CI 1.08-4.93), whereas rs202676 (p.Tyr60His) showed protective role (p value = 0.0066; odds ratio-0.11; 95% CI 0.01-0.86). 30120883 2018
Encephalocele
CUI: C4551722
Disease: Encephalocele
0.010 GeneticVariation BEFREE Although no significant differences in rs202676 genotype or allele frequencies were found between the NTD and control groups, the combined AG+GG genotype group was significantly associated with anencephaly (p = 0.03, OR = 2.11, 95% CI, 1.11-4.01), but not with spina bifida or encephalocele. 22124883 2012
Congenital cerebral hernia
CUI: C0014065
Disease: Congenital cerebral hernia
0.010 GeneticVariation BEFREE Although no significant differences in rs202676 genotype or allele frequencies were found between the NTD and control groups, the combined AG+GG genotype group was significantly associated with anencephaly (p = 0.03, OR = 2.11, 95% CI, 1.11-4.01), but not with spina bifida or encephalocele. 22124883 2012
Anencephaly
CUI: C0002902
Disease: Anencephaly
0.010 GeneticVariation BEFREE Although no significant differences in rs202676 genotype or allele frequencies were found between the NTD and control groups, the combined AG+GG genotype group was significantly associated with anencephaly (p = 0.03, OR = 2.11, 95% CI, 1.11-4.01), but not with spina bifida or encephalocele. 22124883 2012
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
0.010 GeneticVariation BEFREE Although no significant differences in rs202676 genotype or allele frequencies were found between the NTD and control groups, the combined AG+GG genotype group was significantly associated with anencephaly (p = 0.03, OR = 2.11, 95% CI, 1.11-4.01), but not with spina bifida or encephalocele. 22124883 2012