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: rs753900410
rs753900410 		0.925 0.120 2 166277280 frameshift variant A/- delins 4.0E-06 7.0E-06
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: rs753900410
rs753900410 		0.925 0.120 2 166277280 frameshift variant A/- delins 4.0E-06 7.0E-06
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: rs766212849
rs766212849 		0.882 0.120 2 166278199 frameshift variant CTTAA/- 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: rs766212849
rs766212849 		0.882 0.120 2 166278199 frameshift variant CTTAA/- 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
dbSNP: rs766212849
rs766212849 		0.882 0.120 2 166278199 frameshift variant CTTAA/- 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: rs769971743
rs769971743 		0.925 0.120 2 166278233 stop gained C/T snv 4.0E-06
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: rs769971743
rs769971743 		0.925 0.120 2 166278233 stop gained C/T snv 4.0E-06
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: rs80356468
rs80356468 		1.000 0.040 2 166306571 missense variant T/C snv
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.700 0
dbSNP: rs80356473
rs80356473 		1.000 0.040 2 166278156 missense variant A/C;G snv 4.0E-06
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.700 0
dbSNP: rs80356474
rs80356474 		0.925 0.040 2 166277281 missense variant A/G snv
CUI: C1867971
Disease: Acute episodes of neuropathic symptoms
Acute episodes of neuropathic symptoms 		0.700 0
dbSNP: rs80356474
rs80356474 		0.925 0.040 2 166277281 missense variant A/G snv
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs80356477
rs80356477 		0.925 0.040 2 166277237 missense variant C/A;G snv 1.2E-05
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518900
rs1057518900 		0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06
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 1.000 1 1979 1979
dbSNP: rs1057518900
rs1057518900 		0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06
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 1.000 1 1979 1979
dbSNP: rs121908910
rs121908910 		0.882 0.120 2 166272731 missense variant G/A;C snv 1.8E-05; 4.4E-06
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 1.000 1 2006 2006
dbSNP: rs121908910
rs121908910 		0.882 0.120 2 166272731 missense variant G/A;C snv 1.8E-05; 4.4E-06
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 1.000 1 2006 2006
dbSNP: rs794729216
rs794729216 		1.000 0.120 2 166277134 stop gained C/T snv 7.0E-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 1.000 2 2006 2007
dbSNP: rs779327684
rs779327684 		0.925 0.120 2 166280590 frameshift variant -/A delins 5.6E-06
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 1.000 1 2007 2007
dbSNP: rs779327684
rs779327684 		0.925 0.120 2 166280590 frameshift variant -/A delins 5.6E-06
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 1.000 1 2007 2007
dbSNP: rs80356476
rs80356476 		0.925 0.040 2 166277252 missense variant G/A snv
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1295192882
rs1295192882 		0.925 0.120 2 166288436 splice donor variant C/A snv 4.0E-06
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 1.000 2 2007 2009
dbSNP: rs1295192882
rs1295192882 		0.925 0.120 2 166288436 splice donor variant C/A snv 4.0E-06
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 1.000 2 2007 2009
dbSNP: rs187558439
rs187558439 		0.882 0.120 2 166204368 stop gained G/A;T snv 8.0E-06; 6.0E-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 1.000 2 2007 2009
dbSNP: rs187558439
rs187558439 		0.882 0.120 2 166204368 stop gained G/A;T snv 8.0E-06; 6.0E-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 1.000 2 2007 2009
dbSNP: rs746241591
rs746241591 		0.925 0.120 2 166204359 splice donor variant C/A;T snv 8.0E-06
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 1.000 2 2007 2009