Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75193786
rs75193786
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection. 11317360

2001
dbSNP: rs75193786
rs75193786
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE Seven mutations represent 43% of the Spanish PKU alleles, the most common being IVS10nt-11g-->a (14.7%), I65T (8.5%), and V388M (6.2%).The remaining 33 mutations are rare. 8981952

1997
dbSNP: rs75193786
rs75193786
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE Mutations R408W and I65T are the two commonest PKU mutations in the Northern Irish population. 7766952

1994
dbSNP: rs75193786
rs75193786
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE In Quebec the R408W:H-1 and I65T:H-9 haplotypes accounted for 20% of PKU chromosomes, clustered in two geographic regions, and in every family where they occurred an Irish or Scottish ('Celtic') ancestor could be inferred. 7913864

1993