PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: PEROXISOME BIOGENESIS DISORDER 4B ×
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: rs1554128476
rs1554128476 		0.925 0.080 6 42978689 frameshift variant C/- 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: rs1554128488
rs1554128488 		0.925 0.080 6 42978745 frameshift variant G/AT 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: rs1554128501
rs1554128501 		0.925 0.080 6 42978763 frameshift variant TCTC/- 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: 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: 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: rs267608242
rs267608242 		0.925 0.080 6 42965370 splice acceptor variant T/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: 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: rs61753230
rs61753230 		0.882 0.240 6 42965262 missense variant G/A 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: rs751900826
rs751900826 		0.925 0.080 6 42964789 splice donor variant C/T snv 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: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0