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: rs1057518162
rs1057518162 		0.925 0.120 2 166280559 stop gained C/T snv
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057518162
rs1057518162 		0.925 0.120 2 166280559 stop gained C/T snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518900
rs1057518900 		0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.700 0
dbSNP: rs1060502047
rs1060502047 		0.925 0.120 2 166198763 missense variant T/G snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1060502047
rs1060502047 		0.925 0.120 2 166198763 missense variant T/G snv
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908908
rs121908908 		1.000 0.120 2 166286562 stop gained G/A;C snv 2.5E-05
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908909
rs121908909 		1.000 0.120 2 166277133 stop gained C/T snv
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908916
rs121908916 		1.000 0.120 2 166303162 stop gained G/A;T snv 1.6E-05; 1.6E-05
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908917
rs121908917 		1.000 0.120 2 166293354 stop gained G/A;T snv 4.1E-06
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908921
rs121908921 		0.925 0.080 2 166306531 missense variant G/A;T snv 1.5E-05
CUI: C3151229
Disease: FEBRILE SEIZURES, FAMILIAL, 3B
FEBRILE SEIZURES, FAMILIAL, 3B 		0.700 0
dbSNP: rs1411870484
rs1411870484 		0.925 0.120 2 166284523 stop gained G/A;C snv 1.4E-05
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1411870484
rs1411870484 		0.925 0.120 2 166284523 stop gained G/A;C snv 1.4E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553478584
rs1553478584 		1.000 0.120 2 166226601 frameshift variant A/- del
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553488759
rs1553488759 		0.925 0.120 2 166280376 stop gained -/TTTGAATTCCTCAGTCATT delins
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553488759
rs1553488759 		0.925 0.120 2 166280376 stop gained -/TTTGAATTCCTCAGTCATT delins
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1559027674
rs1559027674 		0.925 0.120 2 166303231 frameshift variant CA/- delins
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559027674
rs1559027674 		0.925 0.120 2 166303231 frameshift variant CA/- delins
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs200070962
rs200070962 		0.882 0.120 2 166203996 stop gained C/T snv 4.1E-06
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs200398202
rs200398202 		1.000 0.040 2 166284560 missense variant C/G;T snv 4.0E-06
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		Nervous System Diseases 0.700 0
dbSNP: rs200945460
rs200945460 		0.925 0.080 2 166280508 missense variant A/G;T snv 4.7E-06; 1.6E-04
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		Nervous System Diseases 0.700 0
dbSNP: rs200972952
rs200972952 		2 166306951 splice region variant G/A;T snv 8.3E-06; 4.1E-06
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.700 0
dbSNP: rs377543079
rs377543079 		0.925 0.120 2 166304286 stop gained G/A snv 6.8E-05 2.1E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs377543079
rs377543079 		0.925 0.120 2 166304286 stop gained G/A snv 6.8E-05 2.1E-05
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs606231279
rs606231279 		1.000 0.120 2 166228871 frameshift variant C/AA delins
CUI: C4012054
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID 		0.700 0
dbSNP: rs606231279
rs606231279 		1.000 0.120 2 166228871 frameshift variant C/AA delins
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0