rs1057518162
|
0.925 |
0.120 |
2 |
166280559 |
stop gained |
C/T
|
snv
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057518162
|
0.925 |
0.120 |
2 |
166280559 |
stop gained |
C/T
|
snv
|
|
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057518900
|
0.925 |
0.120 |
2 |
166284785 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Absence of pain sensation
|
Pathological Conditions, Signs and Symptoms; Mental Disorders
|
0.700 |
|
0 |
|
|
rs1060502047
|
0.925 |
0.120 |
2 |
166198763 |
missense variant |
T/G
|
snv
|
|
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060502047
|
0.925 |
0.120 |
2 |
166198763 |
missense variant |
T/G
|
snv
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908908
|
1.000 |
0.120 |
2 |
166286562 |
stop gained |
G/A;C
|
snv
|
2.5E-05
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908909
|
1.000 |
0.120 |
2 |
166277133 |
stop gained |
C/T
|
snv
|
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908916
|
1.000 |
0.120 |
2 |
166303162 |
stop gained |
G/A;T
|
snv
|
1.6E-05;
1.6E-05
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908917
|
1.000 |
0.120 |
2 |
166293354 |
stop gained |
G/A;T
|
snv
|
4.1E-06
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908921
|
0.925 |
0.080 |
2 |
166306531 |
missense variant |
G/A;T
|
snv
|
1.5E-05
|
|
FEBRILE SEIZURES, FAMILIAL, 3B
|
|
0.700 |
|
0 |
|
|
rs1411870484
|
0.925 |
0.120 |
2 |
166284523 |
stop gained |
G/A;C
|
snv
|
|
1.4E-05
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1411870484
|
0.925 |
0.120 |
2 |
166284523 |
stop gained |
G/A;C
|
snv
|
|
1.4E-05
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553478584
|
1.000 |
0.120 |
2 |
166226601 |
frameshift variant |
A/-
|
del
|
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553488759
|
0.925 |
0.120 |
2 |
166280376 |
stop gained |
-/TTTGAATTCCTCAGTCATT
|
delins
|
|
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553488759
|
0.925 |
0.120 |
2 |
166280376 |
stop gained |
-/TTTGAATTCCTCAGTCATT
|
delins
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559027674
|
0.925 |
0.120 |
2 |
166303231 |
frameshift variant |
CA/-
|
delins
|
|
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1559027674
|
0.925 |
0.120 |
2 |
166303231 |
frameshift variant |
CA/-
|
delins
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs200070962
|
0.882 |
0.120 |
2 |
166203996 |
stop gained |
C/T
|
snv
|
4.1E-06
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs200398202
|
1.000 |
0.040 |
2 |
166284560 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Small Fiber Neuropathy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs200945460
|
0.925 |
0.080 |
2 |
166280508 |
missense variant |
A/G;T
|
snv
|
4.7E-06;
1.6E-04
|
|
Small Fiber Neuropathy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs200972952
|
|
|
2 |
166306951 |
splice region variant |
G/A;T
|
snv
|
8.3E-06;
4.1E-06
|
|
Absence of pain sensation
|
Pathological Conditions, Signs and Symptoms; Mental Disorders
|
0.700 |
|
0 |
|
|
rs377543079
|
0.925 |
0.120 |
2 |
166304286 |
stop gained |
G/A
|
snv
|
6.8E-05
|
2.1E-05
|
Generalized Epilepsy With Febrile Seizures Plus, 7
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs377543079
|
0.925 |
0.120 |
2 |
166304286 |
stop gained |
G/A
|
snv
|
6.8E-05
|
2.1E-05
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs606231279
|
1.000 |
0.120 |
2 |
166228871 |
frameshift variant |
C/AA
|
delins
|
|
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
|
|
0.700 |
|
0 |
|
|
rs606231279
|
1.000 |
0.120 |
2 |
166228871 |
frameshift variant |
C/AA
|
delins
|
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|