FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
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: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.800 1.000 13 2009 2016
dbSNP: rs886041390
rs886041390 		0.827 0.080 16 31191431 missense variant C/T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 10 2011 2019
dbSNP: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.090 1.000 9 2010 2017
dbSNP: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.700 1.000 9 2009 2014
dbSNP: rs121909671
rs121909671 		0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.080 1.000 8 2010 2017
dbSNP: rs387906627
rs387906627 		0.925 0.080 16 31191052 stop gained C/T snv 8.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.080 1.000 8 2010 2018
dbSNP: rs121909669
rs121909669 		0.925 0.080 16 31191410 missense variant G/A snv
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.800 1.000 5 2009 2016
dbSNP: rs121909671
rs121909671 		0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.800 1.000 5 2009 2016
dbSNP: rs1555509693
rs1555509693 		1.000 16 31191421 missense variant A/G snv
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 5 2009 2016
dbSNP: rs267606831
rs267606831 		1.000 16 31191089 missense variant G/A snv
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.800 1.000 5 2009 2016
dbSNP: rs267606832
rs267606832 		0.882 0.040 16 31185061 missense variant C/G;T snv 1.3E-04; 4.1E-06
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.800 1.000 5 2009 2016
dbSNP: rs387907274
rs387907274 		0.925 0.040 16 31189158 stop gained C/T snv
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.050 1.000 5 2013 2016
dbSNP: rs777819849
rs777819849 		1.000 16 31185115 missense variant C/T snv 1.3E-05
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 5 2009 2016
dbSNP: rs886041389
rs886041389 		0.925 0.080 16 31191429 missense variant G/C snv
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 5 2009 2016
dbSNP: rs886041390
rs886041390 		0.827 0.080 16 31191431 missense variant C/T snv 4.0E-06
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 5 2009 2016
dbSNP: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2010 2014
dbSNP: rs886041390
rs886041390 		0.827 0.080 16 31191431 missense variant C/T snv 4.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1052352
rs1052352 		0.925 0.120 16 31183958 synonymous variant C/T snv 0.53 0.45
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs1052352
rs1052352 		0.925 0.120 16 31183958 synonymous variant C/T snv 0.53 0.45
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121909668
rs121909668 		0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05
CUI: C3266164
Disease: Dropped head syndrome
Dropped head syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs121909669
rs121909669 		0.925 0.080 16 31191410 missense variant G/A snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121909671
rs121909671 		0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders 		Mental Disorders 0.010 1.000 1 2010 2010