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: rs80356476
rs80356476 		0.925 0.040 2 166277252 missense variant G/A snv
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.810 1.000 12 2004 2014
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: 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: rs80356470
rs80356470 		1.000 0.040 2 166303270 missense variant A/T snv
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.800 1.000 11 2004 2014
dbSNP: rs80356471
rs80356471 		1.000 0.040 2 166288566 missense variant G/A;C;T 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: rs80356475
rs80356475 		1.000 0.040 2 166277251 missense variant A/T snv
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.800 1.000 11 2004 2014
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: 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: 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: 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: 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: rs879253994
rs879253994 		0.925 0.080 2 166199711 missense variant G/A;T snv 4.0E-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: rs121908919
rs121908919 		1.000 0.080 2 166281786 missense variant T/C snv 2.0E-03 1.8E-03
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 0.800 1.000 1 2009 2009
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: rs182650126
rs182650126 		1.000 0.040 2 166280452 missense variant T/C snv 2.4E-03 2.7E-03
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		Nervous System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs1553479216
rs1553479216 		2 166228902 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 21 1995 2016
dbSNP: rs267607030
rs267607030 		1.000 0.040 2 166311728 missense variant T/C snv 1.3E-04 6.3E-05
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.700 1.000 11 2004 2014
dbSNP: rs879253994
rs879253994 		0.925 0.080 2 166199711 missense variant G/A;T snv 4.0E-06
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.700 1.000 11 2004 2014
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: rs200945460
rs200945460 		0.925 0.080 2 166280508 missense variant A/G;T snv 4.7E-06; 1.6E-04
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		Cardiovascular Diseases 0.700 1.000 3 2012 2016