Disease: Familial Amyloid Polyneuropathy, Type V ×
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: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 0.917 12 1999 2017
dbSNP: rs1052006472
rs1052006472 		0.827 0.200 5 136060907 missense variant A/G snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 2003 2017
dbSNP: rs267607109
rs267607109 		0.827 0.160 5 136056754 missense variant C/A snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 2004 2017
dbSNP: rs1050842080
rs1050842080 		0.925 0.160 5 136056697 missense variant T/G snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2001 2010
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2000 2016
dbSNP: rs121909212
rs121909212 		0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 0.667 3 2000 2013
dbSNP: rs121909209
rs121909209 		0.763 0.160 5 136056781 missense variant G/A snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2011 2012
dbSNP: rs1204100257
rs1204100257 		0.925 0.160 5 136046453 synonymous variant C/T snv 2.4E-05 7.0E-05
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121909215
rs121909215 		0.790 0.200 5 136060898 missense variant G/A snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121909216
rs121909216 		0.882 0.200 5 136055795 missense variant T/G snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs188677757
rs188677757 		1.000 0.120 5 136055773 missense variant A/G;T snv 1.9E-03; 4.0E-06
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs200201691
rs200201691 		0.925 0.160 5 136060900 missense variant G/A snv 2.4E-04 8.4E-04
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs267607110
rs267607110 		0.851 0.160 5 136056769 missense variant C/A snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004