rs1024152367
|
1.000 |
0.120 |
2 |
166277137 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2010 |
2010 |
rs794729216
|
1.000 |
0.120 |
2 |
166277134 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2007 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs766212849
|
0.882 |
0.120 |
2 |
166278199 |
frameshift variant |
CTTAA/-
|
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 |
|
|
rs187558439
|
0.882 |
0.120 |
2 |
166204368 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
6.0E-05
|
|
Indifference to Pain, Congenital, Autosomal Recessive
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |