Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030849
rs5030849
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare their phenylalanine hydroxylase (PAH) genotypes (A395P/ IVS12+g>a and R261Q/165T, respectively) to those of previous cases from the literature. 11999982

2002
dbSNP: rs5030849
rs5030849
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE The other five mutations (R158Q, R261Q, R252W, R261X, and IVS12nt-1) accounted for 1.7%-6.7% of all PKU alleles, and a single haplotype was associated with each genotype, except for R261Q. 10570906

1999
dbSNP: rs5030849
rs5030849
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE Compound heterozygosity for R261Q and other mutations led in other patients either to classical PKU or to mild benign HPA. 8487271

1993
dbSNP: rs5030849
rs5030849
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE Both mothers were shown to be homozygous for a point mutation leading to an Arg-to-Gln substitution at codon 261 of the phenylalanine hydroxylase gene, a mutation which has been recently identified and tentatively associated with a mild variant of PKU. 1915502

1991