SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Source: BEFREE ×
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: rs1424014997
rs1424014997 		0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2006 2014
dbSNP: rs1424014997
rs1424014997 		0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 1993 2009
dbSNP: rs1424014997
rs1424014997 		0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1476760624
rs1476760624 		1.000 0.080 21 31668559 missense variant T/G snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 1997 1997
dbSNP: rs567511139
rs567511139 		0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1482760341
rs1482760341 		0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 2 1993 2017
dbSNP: rs1482760341
rs1482760341 		0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1319062081
rs1319062081 		0.925 0.120 21 31668537 stop gained G/T snv
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 2015 2015
dbSNP: rs1319062081
rs1319062081 		0.925 0.120 21 31668537 stop gained G/T snv
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs121912451
rs121912451 		0.925 0.080 21 31668517 missense variant G/A;C 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 2005 2005
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0275551
Disease: Primary bacterial peritonitis
Primary bacterial peritonitis 		Digestive System Diseases; Infections 0.010 1.000 1 2017 2017
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2017 2017
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4816407
rs4816407 		0.925 0.080 21 31667716 intron variant A/G snv 0.15
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4816407
rs4816407 		0.925 0.080 21 31667716 intron variant A/G snv 0.15
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs199474723
rs199474723 		1.000 0.080 21 31667370 missense variant C/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.070 1.000 7 1997 2015
dbSNP: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 1999 2015
dbSNP: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1997 1997
dbSNP: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 1 1993 2012