Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62514952
rs62514952
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE The high residual activities of the mutant enzyme obtained at these conditions were not in agreement with the classical PKU phenotype found in a patient compound heterozygous for the termination mutation G272X and the novel D143G mutation. 8889583

1996
dbSNP: rs62514952
rs62514952
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE Each of four other mutations (R158Q, R243X, G272X, IVS12nt1) accounted for more than 3% of PKU alleles. 7557973

1995
dbSNP: rs62514952
rs62514952
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE The phenylketonuria G272X haplotype 7 mutation in European populations. 8370573

1993
dbSNP: rs62514952
rs62514952
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.040 GeneticVariation BEFREE The abrogation of the BamHI site was shown to be due to a G-to-T transversion, changing Gly 272 to Ter 272 in exon 7 of the gene, thus directly identifying the PKU mutation. 1978553

1990