Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554127531
rs1554127531
PEX6
0.700 GeneticVariation UNIPROT PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283

2016
dbSNP: rs1554127531
rs1554127531
PEX6
0.700 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
dbSNP: rs1554127531
rs1554127531
PEX6
0.700 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009