SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Alzheimer's Disease ×
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: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2013 2019
dbSNP: rs121912442
rs121912442 		0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs121912443
rs121912443 		0.732 0.160 21 31663857 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs2070424
rs2070424 		0.851 0.200 21 31667007 non coding transcript exon variant A/G snv 0.13
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015