SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
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: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.100 0.947 19 2001 2015
dbSNP: rs121912443
rs121912443
0.732 0.160 21 31663857 missense variant A/G snv
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.020 1.000 2 2001 2005
dbSNP: rs121912431
rs121912431
0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
0.010 1.000 1 2010 2010