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: 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: 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: rs146818694
rs146818694 		1.000 0.120 9 69064991 missense variant C/G snv
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 2 2004 2014
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: 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
dbSNP: rs139616452
rs139616452 		1.000 0.120 9 69072673 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 0.700 1.000 6 1997 2009
dbSNP: rs144104124
rs144104124 		1.000 0.120 9 69072722 missense variant T/G 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 1.000 6 1997 2009
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: rs7870295
rs7870295 		1.000 0.080 9 69071560 intron variant G/A;C snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs104894108
rs104894108 		1.000 0.120 9 69035785 start lost G/A;T snv 9.1E-06
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs140987490
rs140987490 		1.000 0.120 9 69064936 splice acceptor variant A/G 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: rs141935559
rs141935559 		1.000 0.120 9 69035936 frameshift variant C/-;CC delins
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: 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: rs56214919
rs56214919 		1.000 0.120 9 69072646 missense variant T/G 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: rs886037630
rs886037630 		1.000 0.120 9 69053247 protein altering variant ATGTCT/TACACCTTGAGGACA delins
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: 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: 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: 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: rs1336452397
rs1336452397 		1.000 0.120 9 69053191 frameshift variant TT/-;T delins
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: 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