PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
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: rs61752095
rs61752095 		1.000 0.080 1 2406526 missense variant G/C snv
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 1998 1998
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: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2000 2010
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: rs61750435
rs61750435 		0.882 0.080 1 2406791 frameshift variant -/T delins 2.1E-05 7.7E-05
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2000 2010
dbSNP: rs61752093
rs61752093 		0.882 0.080 1 2406581 frameshift variant AG/- del 6.3E-05
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2011
dbSNP: rs267608183
rs267608183 		0.882 0.080 1 2408451 splice donor variant C/T snv 2.4E-05 2.1E-05
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2015
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: rs369965266
rs369965266 		0.925 0.080 1 2408700 stop gained G/A snv
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2015
dbSNP: rs369965266
rs369965266 		0.925 0.080 1 2408700 stop gained G/A snv
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2015
dbSNP: rs61750435
rs61750435 		0.882 0.080 1 2406791 frameshift variant -/T delins 2.1E-05 7.7E-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 3 2000 2011
dbSNP: rs61752093
rs61752093 		0.882 0.080 1 2406581 frameshift variant AG/- del 6.3E-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 3 2000 2011
dbSNP: rs61750434
rs61750434 		0.925 0.080 1 2408679 stop gained G/A snv 7.0E-06
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2000
dbSNP: rs61750434
rs61750434 		0.925 0.080 1 2408679 stop gained G/A snv 7.0E-06
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2000
dbSNP: rs61752092
rs61752092 		0.925 0.080 1 2406766 stop gained G/A;C snv 2.5E-05
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2004 2006
dbSNP: rs61752092
rs61752092 		0.925 0.080 1 2406766 stop gained G/A;C snv 2.5E-05
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2004 2006
dbSNP: rs62636524
rs62636524 		1.000 0.080 1 2412499 frameshift variant C/- delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2004 2011
dbSNP: rs724160002
rs724160002 		0.925 0.080 1 2412501 start lost A/G snv
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2011
dbSNP: rs724160002
rs724160002 		0.925 0.080 1 2412501 start lost A/G snv
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2011
dbSNP: rs1325771720
rs1325771720 		0.925 0.080 1 2406740 frameshift variant TG/- delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1995 1995
dbSNP: rs1325771720
rs1325771720 		0.925 0.080 1 2406740 frameshift variant TG/- delins
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1995 1995
dbSNP: rs1553231783
rs1553231783 		0.925 0.080 1 2406581 frameshift variant A/- del
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1553231783
rs1553231783 		0.925 0.080 1 2406581 frameshift variant A/- del
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1553231787
rs1553231787 		0.925 0.080 1 2406600 frameshift variant TC/- delins
CUI: C3553947
Disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1553231787
rs1553231787 		0.925 0.080 1 2406600 frameshift variant TC/- delins
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000