SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Fatigability ×
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: rs121912437
rs121912437 		0.851 0.080 21 31667298 missense variant G/A;C;T snv
CUI: C0231230
Disease: Fatigability
Fatigability 		0.010 1.000 1 2017 2017
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0231230
Disease: Fatigability
Fatigability 		0.010 1.000 1 2011 2011