PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: Peroxisome biogenesis disorders ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398123408
rs398123408 		0.925 0.240 7 92504842 protein altering variant -/TCCACACTG delins 1.2E-05 2.1E-05
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1997 2011
dbSNP: rs149806989
rs149806989 		0.925 0.240 7 92517968 stop gained G/A snv 8.0E-06
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2009 2010
dbSNP: rs61750420
rs61750420 		0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1997 2016
dbSNP: rs61750428
rs61750428 		0.882 0.360 7 92494331 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2009 2015
dbSNP: rs1562857198
rs1562857198 		7 92506246 splice donor variant A/G snv
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs61750415
rs61750415 		0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs61750417
rs61750417 		1.000 0.240 7 92501938 stop gained G/A;C snv 2.0E-05
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs61750426
rs61750426 		0.925 0.240 7 92494497 frameshift variant T/-;TTT delins 3.6E-05 5.6E-05
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2002 2002