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: 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: 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: 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: 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: rs80356478
rs80356478 		1.000 0.040 2 166226587 missense variant A/C snv
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.800 1.000 11 2004 2014
dbSNP: rs1553474394
rs1553474394 		1.000 0.040 2 166204446 missense variant A/C 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: 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: rs80356469
rs80356469 		0.925 0.080 2 166304279 missense variant A/G snv
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.800 1.000 11 2004 2014
dbSNP: rs80356474
rs80356474 		0.925 0.040 2 166277281 missense variant A/G snv
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.800 1.000 11 2004 2014
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.040 1.000 4 2010 2018
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: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0004604
Disease: Back Pain
Back Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0019270
Disease: Hernia
Hernia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0027796
Disease: Neuralgia
Neuralgia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0391976
Disease: Pain Disorder
Pain Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs6746030
rs6746030 		0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2017 2017