rs587777443
|
1.000 |
0.280 |
5 |
119525259 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
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 |
4 |
2006 |
2014 |
rs766199971
|
1.000 |
0.280 |
5 |
119525228 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
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 |
2015 |
rs1057516672
|
|
|
5 |
119475719 |
frameshift variant |
-/A
|
delins
|
|
|
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 |
rs1085307072
|
1.000 |
0.280 |
5 |
119452578 |
start lost |
G/A
|
snv
|
|
|
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 |
2000 |
2000 |
rs1085307072
|
1.000 |
0.280 |
5 |
119452578 |
start lost |
G/A
|
snv
|
|
|
PERRAULT SYNDROME 1
|
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 |
2000 |
2000 |
rs140543491
|
|
|
5 |
119587906 |
intron variant |
C/A;T
|
snv
|
|
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1561457987
|
|
|
5 |
119493864 |
frameshift variant |
C/-
|
delins
|
|
|
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 |
rs387906825
|
1.000 |
0.280 |
5 |
119489219 |
missense variant |
A/G;T
|
snv
|
|
|
PERRAULT SYNDROME 1
|
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
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs7726558
|
|
|
5 |
119576903 |
intron variant |
G/C
|
snv
|
|
0.13
|
QT interval feature (observable entity)
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1057516269
|
|
|
5 |
119496546 |
stop gained |
C/G
|
snv
|
|
|
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 |
|
|
rs1057516310
|
|
|
5 |
119479003 |
frameshift variant |
ACAG/-
|
delins
|
|
|
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 |
|
|
rs1057516312
|
|
|
5 |
119531316 |
frameshift variant |
A/-
|
delins
|
|
|
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 |
|
|
rs1057516735
|
|
|
5 |
119506824 |
stop gained |
T/G
|
snv
|
|
|
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 |
|
|
rs1057516750
|
|
|
5 |
119489275 |
frameshift variant |
TTTG/-
|
delins
|
|
|
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 |
|
|
rs1057516859
|
|
|
5 |
119514983 |
frameshift variant |
AG/-
|
del
|
|
|
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 |
|
|
rs1057516936
|
|
|
5 |
119527167 |
frameshift variant |
CT/-
|
delins
|
|
|
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 |
|
|
rs1057516958
|
|
|
5 |
119475871 |
splice donor variant |
G/T
|
snv
|
|
|
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 |
|
|
rs1057517045
|
|
|
5 |
119506854 |
frameshift variant |
GATA/-
|
delins
|
|
|
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 |
|
|
rs1057517118
|
|
|
5 |
119499315 |
splice acceptor variant |
A/C
|
snv
|
|
|
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 |
|
|
rs1057517152
|
|
|
5 |
119531344 |
frameshift variant |
GTAAA/-
|
delins
|
|
|
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 |
|
|
rs1057517323
|
1.000 |
0.280 |
5 |
119525970 |
frameshift variant |
-/GTGT
|
delins
|
|
2.1E-05
|
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 |
|
|
rs1057517323
|
1.000 |
0.280 |
5 |
119525970 |
frameshift variant |
-/GTGT
|
delins
|
|
2.1E-05
|
PERRAULT SYNDROME 1
|
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 |
|
|
rs1171426785
|
|
|
5 |
119478832 |
splice acceptor variant |
A/G;T
|
snv
|
|
7.0E-06
|
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 |
|
|
rs1231357043
|
|
|
5 |
119474017 |
splice donor variant |
T/C
|
snv
|
|
|
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 |
|
|
rs1276397342
|
|
|
5 |
119474447 |
frameshift variant |
T/-
|
delins
|
|
7.0E-06
|
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 |
|
|