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: rs1553479216
rs1553479216 		2 166228902 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 21 1995 2016
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: rs12478318
rs12478318 		2 166277030 missense variant T/G snv 3.7E-02 1.3E-02
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs41268673
rs41268673 		2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4369876
rs4369876 		2 166272746 missense variant C/A snv 3.3E-02 1.3E-02
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs74401238
rs74401238 		2 166251875 missense variant C/G;T snv 8.5E-05; 2.0E-02
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs879254102
rs879254102 		2 166277257 missense variant C/T snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
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: 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: 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: 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: 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: 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: 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: rs180922748
rs180922748 		1.000 0.040 2 166233432 missense variant G/C snv 1.2E-03 1.7E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
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: rs199692186
rs199692186 		1.000 0.040 2 166272748 missense variant T/C snv 6.3E-04 5.5E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs73969684
rs73969684 		1.000 0.040 2 166305834 missense variant C/G;T snv 1.2E-05; 2.8E-03
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders 		Nervous System Diseases 0.010 1.000 1 2012 2012