FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
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: rs4596713
rs4596713 		9 69084300 intron variant C/T snv 0.61
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs143396368
rs143396368 		0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368 		0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368 		0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368 		0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368 		0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06
CUI: C0596452
Disease: disabling disease
disabling disease 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368 		0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368 		0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs104894107
rs104894107 		0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 6 1997 2009
dbSNP: rs104894107
rs104894107 		0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.030 1.000 3 1999 2010
dbSNP: rs104894107
rs104894107 		0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2002 2010
dbSNP: rs104894107
rs104894107 		0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2002 2008
dbSNP: rs104894107
rs104894107 		0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs104894107
rs104894107 		0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs142157346
rs142157346 		0.882 0.160 9 69053240 missense variant G/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs142157346
rs142157346 		0.882 0.160 9 69053240 missense variant G/T snv
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs142157346
rs142157346 		0.882 0.160 9 69053240 missense variant G/T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs142157346
rs142157346 		0.882 0.160 9 69053240 missense variant G/T snv
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894106
rs104894106 		0.925 0.120 9 69065013 missense variant A/G;T snv 4.0E-06
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 7 1997 2009
dbSNP: rs104894105
rs104894105 		0.925 0.120 9 69053193 stop gained T/C;G snv 1.2E-05
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 6 1997 2009
dbSNP: rs104894105
rs104894105 		0.925 0.120 9 69053193 stop gained T/C;G snv 1.2E-05
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs104894106
rs104894106 		0.925 0.120 9 69065013 missense variant A/G;T snv 4.0E-06
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs138034837
rs138034837 		0.925 0.120 9 69072622 missense variant C/T snv
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2020 2020
dbSNP: rs138034837
rs138034837 		0.925 0.120 9 69072622 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs138471431
rs138471431 		0.925 0.120 9 69065016 missense variant T/C snv
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2007 2007