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: rs1024152367
rs1024152367 		1.000 0.120 2 166277137 missense variant C/T snv 4.0E-06 1.4E-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 0.710 1.000 1 2010 2010
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: 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: 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: rs1131691776
rs1131691776 		1.000 0.040 2 166199771 missense variant A/G snv
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		Pathological Conditions, Signs and Symptoms 0.810 1.000 1 2015 2015
dbSNP: rs11898284
rs11898284 		2 166325017 intron variant A/G snv 0.15
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
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: rs121908910
rs121908910 		0.882 0.120 2 166272731 missense variant G/A;C snv 1.8E-05; 4.4E-06
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		Pathological Conditions, Signs and Symptoms 0.800 1.000 3 2006 2015
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: rs121908911
rs121908911 		1.000 0.040 2 166228971 missense variant A/T snv
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		Pathological Conditions, Signs and Symptoms 0.800 1.000 3 2006 2015
dbSNP: rs121908912
rs121908912 		1.000 0.040 2 166228972 missense variant C/A snv
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		Pathological Conditions, Signs and Symptoms 0.800 1.000 3 2006 2015
dbSNP: rs121908913
rs121908913 		0.882 0.120 2 166228969 missense variant C/A 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 1.000 3 2006 2011
dbSNP: rs121908913
rs121908913 		0.882 0.120 2 166228969 missense variant C/A 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 1.000 3 2006 2011
dbSNP: rs121908913
rs121908913 		0.882 0.120 2 166228969 missense variant C/A snv
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		Pathological Conditions, Signs and Symptoms 0.800 1.000 3 2006 2015
dbSNP: rs121908914
rs121908914 		1.000 0.040 2 166204448 missense variant A/G;T snv
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		Pathological Conditions, Signs and Symptoms 0.800 1.000 3 2006 2015
dbSNP: rs121908915
rs121908915 		1.000 0.040 2 166204439 missense variant G/A snv
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		Pathological Conditions, Signs and Symptoms 0.800 1.000 3 2006 2015
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: rs121908918
rs121908918 		1.000 0.080 2 166284506 missense variant T/A snv 2.4E-05 3.5E-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 1 2009 2009