rs121912438, SOD1

N. diseases: 58
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2015 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2015 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2013 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2015 2015
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2018 2019
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 0.995 416 1996 2020
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
349 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 1999 1999
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2003 2019
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 1.000 14 1997 2013
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
leukemia
CUI: C0023418
Disease: leukemia
144 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.900 1.000 39 1993 2016
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2009 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
93 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2012 2016
Amyotrophic Lateral Sclerosis, Sporadic
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
90 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2004 2011
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2010 2016