Gene: PEX1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206

2016
dbSNP: rs61750428
rs61750428
PEX1 ; GATAD1
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs398123408
rs398123408
PEX1
ATCCACACTG 0.700 CausalMutation CLINVAR Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 21846392

2011
dbSNP: rs61750417
rs61750417
PEX1
A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs149806989
rs149806989
PEX1
A 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs149806989
rs149806989
PEX1
A 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs1562857198
rs1562857198
PEX1
G 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs398123408
rs398123408
PEX1
ATCCACACTG 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs61750428
rs61750428
PEX1 ; GATAD1
A 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs398123408
rs398123408
PEX1
ATCCACACTG 0.700 CausalMutation CLINVAR PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265

2002
dbSNP: rs61750426
rs61750426
PEX1 ; GATAD1
C 0.700 CausalMutation CLINVAR PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265

2002
dbSNP: rs61750415
rs61750415
PEX1
TA 0.700 CausalMutation CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258

1999
dbSNP: rs398123408
rs398123408
PEX1
ATCCACACTG 0.700 CausalMutation CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997
dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997