PFN1, profilin 1, 5216

N. diseases: 119; N. variants: 8
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: rs140547520
rs140547520 		0.851 0.120 17 4945973 missense variant T/C snv 5.0E-04 5.9E-04
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.800 1.000 1 2012 2012
dbSNP: rs387907264
rs387907264 		0.851 0.080 17 4946742 missense variant A/C snv
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.800 1.000 1 2012 2012
dbSNP: rs387907265
rs387907265 		0.925 0.080 17 4945982 missense variant A/C;G snv
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.800 1.000 1 2012 2012
dbSNP: rs387907266
rs387907266 		0.882 0.080 17 4945970 missense variant C/A snv 4.0E-06
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.800 1.000 1 2012 2012
dbSNP: rs4790714
rs4790714 		17 4949168 intron variant C/G;T snv 0.52
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs4790714
rs4790714 		17 4949168 intron variant C/G;T snv 0.52
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs387907265
rs387907265 		0.925 0.080 17 4945982 missense variant A/C;G snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387907264
rs387907264 		0.851 0.080 17 4946742 missense variant A/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.050 1.000 5 2015 2019
dbSNP: rs140547520
rs140547520 		0.851 0.120 17 4945973 missense variant T/C snv 5.0E-04 5.9E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 2013 2015
dbSNP: rs387907266
rs387907266 		0.882 0.080 17 4945970 missense variant C/A snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2018 2018
dbSNP: rs13204
rs13204 		1.000 0.080 17 4945989 missense variant G/A;C;T snv 7.0E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1350932038
rs1350932038 		1.000 0.080 17 4948337 missense variant C/T snv 4.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs140547520
rs140547520 		0.851 0.120 17 4945973 missense variant T/C snv 5.0E-04 5.9E-04
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs140547520
rs140547520 		0.851 0.120 17 4945973 missense variant T/C snv 5.0E-04 5.9E-04
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs238243
rs238243 		17 4946340 intron variant A/C;G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs387907264
rs387907264 		0.851 0.080 17 4946742 missense variant A/C snv
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.010 1.000 1 2017 2017
dbSNP: rs387907264
rs387907264 		0.851 0.080 17 4946742 missense variant A/C snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs387907264
rs387907264 		0.851 0.080 17 4946742 missense variant A/C snv
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		0.010 1.000 1 2019 2019
dbSNP: rs387907265
rs387907265 		0.925 0.080 17 4945982 missense variant A/C;G snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs387907266
rs387907266 		0.882 0.080 17 4945970 missense variant C/A snv 4.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015