SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Frontotemporal dementia ×
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: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012