Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074174
rs120074174
HGD
0.810 GeneticVariation BEFREE Analysis of nine intragenic HGO polymorphisms showed that the R58fs, R225H and G270R Turkish AKU mutations are associated with specific HGO haplotypes. 12872836

2003

dbSNP: rs120074172
rs120074172
HGD
0.810 GeneticVariation BEFREE We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. 10594001

1999

dbSNP: rs120074173
rs120074173
HGD
0.810 GeneticVariation BEFREE We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. 10594001

1999

dbSNP: rs754428438
rs754428438
HGD
0.710 GeneticVariation BEFREE These analyses identified two novel single-nucleotide polymorphisms (INV4+31A-->G and INV11+18A-->G) and six novel AKU mutations (INV1-1G-->A, W60G, Y62C, A122D, P230T, and D291E), which further illustrates the remarkable allelic heterogeneity found in AKU. 10205262

1999