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: rs773305477
rs773305477 		5 119477461 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2006 2017
dbSNP: rs1057516672
rs1057516672 		5 119475719 frameshift variant -/A delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs140543491
rs140543491 		5 119587906 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1561457987
rs1561457987 		5 119493864 frameshift variant C/- delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs25640
rs25640 		5 119475838 missense variant G/A;C snv 0.45
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		Musculoskeletal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs7726558
rs7726558 		5 119576903 intron variant G/C snv 0.13
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2018 2018
dbSNP: rs1057516269
rs1057516269 		5 119496546 stop gained C/G snv
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516273
rs1057516273 		5 119514979 splice acceptor variant A/C snv 4.0E-06
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516310
rs1057516310 		5 119479003 frameshift variant ACAG/- delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516312
rs1057516312 		5 119531316 frameshift variant A/- delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516735
rs1057516735 		5 119506824 stop gained T/G snv
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516750
rs1057516750 		5 119489275 frameshift variant TTTG/- delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516859
rs1057516859 		5 119514983 frameshift variant AG/- del
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516936
rs1057516936 		5 119527167 frameshift variant CT/- delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057516958
rs1057516958 		5 119475871 splice donor variant G/T snv
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057517045
rs1057517045 		5 119506854 frameshift variant GATA/- delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057517118
rs1057517118 		5 119499315 splice acceptor variant A/C snv
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057517152
rs1057517152 		5 119531344 frameshift variant GTAAA/- delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1171426785
rs1171426785 		5 119478832 splice acceptor variant A/G;T snv 7.0E-06
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1224475289
rs1224475289 		5 119473907 splice acceptor variant G/A;T snv 4.0E-06
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1231357043
rs1231357043 		5 119474017 splice donor variant T/C snv
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1276397342
rs1276397342 		5 119474447 frameshift variant T/- delins 7.0E-06
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554059509
rs1554059509 		5 119452630 splice donor variant CAGGTG/- delins
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554062168
rs1554062168 		5 119474400 splice acceptor variant G/C snv
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554062343
rs1554062343 		5 119475704 splice acceptor variant A/G snv
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0