PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
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: rs1491384052
rs1491384052 		0.925 0.080 6 42978640 frameshift variant -/A 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 1 1996 1996
dbSNP: rs1491384052
rs1491384052 		0.925 0.080 6 42978640 frameshift variant -/A delins
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1996 1996
dbSNP: rs1491384052
rs1491384052 		0.925 0.080 6 42978640 frameshift variant -/A delins
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1996 1996
dbSNP: rs1554128586
rs1554128586 		0.925 0.080 6 42979107 frameshift variant -/CG delins
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554128586
rs1554128586 		0.925 0.080 6 42979107 frameshift variant -/CG delins
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs863225083
rs863225083 		0.882 0.080 6 42967411 frameshift variant A/- del 4.0E-06 7.0E-06
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225083
rs863225083 		0.882 0.080 6 42967411 frameshift variant A/- del 4.0E-06 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1554127383
rs1554127383 		0.925 0.080 6 42968872 splice donor variant A/- del
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554127383
rs1554127383 		0.925 0.080 6 42968872 splice donor variant A/- del
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs766483138
rs766483138 		0.925 0.080 6 42966537 frameshift variant A/- delins 8.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs766483138
rs766483138 		0.925 0.080 6 42966537 frameshift variant A/- delins 8.0E-06
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs863225083
rs863225083 		0.882 0.080 6 42967411 frameshift variant A/- del 4.0E-06 7.0E-06
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.700 0
dbSNP: rs886037780
rs886037780 		1.000 6 42978876 missense variant A/C snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 3 2009 2016
dbSNP: rs1554128597
rs1554128597 		0.925 0.080 6 42979149 start lost A/C snv
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554128597
rs1554128597 		0.925 0.080 6 42979149 start lost A/C snv
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906809
rs387906809 		0.925 0.080 6 42968377 missense variant A/G snv
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2009 2016
dbSNP: rs61752140
rs61752140 		0.925 0.080 6 42978981 missense variant A/G snv
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2010
dbSNP: rs61752140
rs61752140 		0.925 0.080 6 42978981 missense variant A/G snv
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs61752140
rs61752140 		0.925 0.080 6 42978981 missense variant A/G snv
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs9471987
rs9471987 		6 42976402 intron variant A/G snv 0.57
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1416001981
rs1416001981 		0.925 0.080 6 42974001 splice donor variant A/G snv 4.0E-06 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1416001981
rs1416001981 		0.925 0.080 6 42974001 splice donor variant A/G snv 4.0E-06 7.0E-06
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs387906809
rs387906809 		0.925 0.080 6 42968377 missense variant A/G snv
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs755716911
rs755716911 		6 42965787 splice acceptor variant AC/- delins
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267608227
rs267608227 		1.000 0.080 6 42966796 frameshift variant C/- delins 2.0E-05 3.5E-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 2009 2011