PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7 ×
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: rs61752093
rs61752093 		0.882 0.080 1 2406581 frameshift variant AG/- del 6.3E-05
CUI: C1864399
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7
Peroxisome Biogenesis Disorder, Complementation Group 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1998 2011
dbSNP: rs61750435
rs61750435 		0.882 0.080 1 2406791 frameshift variant -/T delins 2.1E-05 7.7E-05
CUI: C1864399
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7
Peroxisome Biogenesis Disorder, Complementation Group 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2000 2011
dbSNP: rs267608183
rs267608183 		0.882 0.080 1 2408451 splice donor variant C/T snv 2.4E-05 2.1E-05
CUI: C1864399
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7
Peroxisome Biogenesis Disorder, Complementation Group 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2011
dbSNP: rs878853044
rs878853044 		1.000 0.080 1 2408714 frameshift variant A/- del
CUI: C1864399
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7
Peroxisome Biogenesis Disorder, Complementation Group 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0