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: rs1165095258
rs1165095258 		1.000 16 31185145 missense variant C/T snv 1.4E-05
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 0
dbSNP: rs121909667
rs121909667 		1.000 0.120 16 31191408 missense variant C/G snv 1.2E-05
CUI: C2750729
Disease: Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs148758737
rs148758737 		0.925 0.080 16 31184986 missense variant G/A snv
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 0
dbSNP: rs1555509569
rs1555509569 		1.000 16 31190961 splice acceptor variant A/- del
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 0
dbSNP: rs186547381
rs186547381 		0.925 0.040 16 31190398 missense variant C/T snv 1.2E-04 1.6E-04
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.700 0
dbSNP: rs267606833
rs267606833 		1.000 16 31191427 missense variant A/T snv
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 0
dbSNP: rs387906627
rs387906627 		0.925 0.080 16 31191052 stop gained C/T snv 8.1E-06
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 0
dbSNP: rs387906628
rs387906628 		1.000 16 31185031 missense variant G/A snv 6.5E-05 7.0E-06
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 0
dbSNP: rs387907274
rs387907274 		0.925 0.040 16 31189158 stop gained C/T snv
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.700 0
dbSNP: rs748374535
rs748374535 		0.925 0.080 16 31185103 missense variant G/T snv 1.3E-05
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 0
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: 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: 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
dbSNP: rs121909671
rs121909671 		0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs148758737
rs148758737 		0.925 0.080 16 31184986 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 2010 2010
dbSNP: rs370954028
rs370954028 		1.000 0.080 16 31184974 missense variant G/A;T snv 8.0E-06; 8.0E-06 1.4E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs741810
rs741810 		0.925 0.120 16 31182621 synonymous variant C/A;G;T snv 0.32; 4.0E-06; 4.0E-06
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: rs752076094
rs752076094 		0.925 0.120 16 31185175 missense variant A/G snv 8.4E-06 2.8E-05
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: rs752076094
rs752076094 		0.925 0.120 16 31185175 missense variant A/G snv 8.4E-06 2.8E-05
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs886041389
rs886041389 		0.925 0.080 16 31191429 missense variant G/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
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: rs121909671
rs121909671 		0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.010 1.000 1 2012 2012
dbSNP: rs121909671
rs121909671 		0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06
CUI: C0205858
Disease: General Paralysis
General Paralysis 		Infections; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1423300240
rs1423300240 		1.000 0.120 16 31184952 missense variant A/C;G snv 4.0E-06
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs150529460
rs150529460 		1.000 0.080 16 31191033 synonymous variant C/T snv 1.1E-03 7.3E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012