Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1261281771
rs1261281771
SOD2
0.925 0.080 6 159688191 missense variant C/G snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.030 1.000 3 2003 2017
dbSNP: rs1261281771
rs1261281771
SOD2
0.925 0.080 6 159688191 missense variant C/G snv 7.0E-06
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2007 2007