PEX26, peroxisomal biogenesis factor 26, 55670

N. diseases: 132; N. variants: 13
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: rs61752129
rs61752129 		0.776 0.240 22 18078405 frameshift variant C/-;CC delins
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2010
dbSNP: rs62641228
rs62641228 		0.882 0.080 22 18079935 missense variant C/G;T snv 7.2E-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 2 2006 2010
dbSNP: rs1556586479
rs1556586479 		22 18078561 stop gained G/A 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 2011 2011