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: rs80356474
rs80356474 		0.925 0.040 2 166277281 missense variant A/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs121908921
rs121908921 		0.925 0.080 2 166306531 missense variant G/A;T snv 1.5E-05
CUI: C3151229
Disease: FEBRILE SEIZURES, FAMILIAL, 3B
FEBRILE SEIZURES, FAMILIAL, 3B 		0.700 0
dbSNP: rs606231279
rs606231279 		1.000 0.120 2 166228871 frameshift variant C/AA delins
CUI: C4012054
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID 		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: 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: 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: 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: 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
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: 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: rs80356477
rs80356477 		0.925 0.040 2 166277237 missense variant C/A;G snv 1.2E-05
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
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: 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: 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: 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: rs1553491169
rs1553491169 		0.925 0.120 2 166288553 missense variant 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 1.000 2 2009 2012