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: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4998557
rs4998557 		0.851 0.080 21 31662579 intron variant G/A snv 0.22
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C0278837
Disease: Stage IV Prostate Carcinoma
Stage IV Prostate Carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C4553752
Disease: Stage IV Prostate Cancer AJCC v8
Stage IV Prostate Cancer AJCC v8 		0.010 1.000 1 2015 2015
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C3146264
Disease: Stage IV Prostate Cancer AJCC v7
Stage IV Prostate Cancer AJCC v7 		0.010 1.000 1 2015 2015
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0752130
Disease: Spinal Cord Ischemia
Spinal Cord Ischemia 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.010 1.000 1 2019 2019
dbSNP: rs121912431
rs121912431 		0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2003 2003
dbSNP: rs17884057
rs17884057 		0.925 0.080 21 31664502 intron variant AGA/- delins 0.13
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2011 2013
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
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: rs9967983
rs9967983 		0.925 0.080 21 31665169 intron variant A/T snv 0.47
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		0.010 1.000 1 2007 2007
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121912433
rs121912433 		0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2005 2005
dbSNP: rs121912436
rs121912436 		0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 1997 1997
dbSNP: rs121912456
rs121912456 		0.851 0.120 21 31659806 missense variant G/C snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2005 2005
dbSNP: rs774994509
rs774994509 		0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2011 2011
dbSNP: rs80265967
rs80265967 		0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2005 2005
dbSNP: rs121912433
rs121912433 		0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2005 2005
dbSNP: rs121912436
rs121912436 		0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 1997 1997
dbSNP: rs121912456
rs121912456 		0.851 0.120 21 31659806 missense variant G/C snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2005 2005
dbSNP: rs774994509
rs774994509 		0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2011 2011