Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2007 2016
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2007 2015
dbSNP: rs121964856
rs121964856
TNNT2
8 0.807 0.120 1 201365297 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs201078173
rs201078173
SDS
4 0.925 0.280 12 113399616 missense variant C/T snv 8.6E-06 7.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs57965306
rs57965306
DES
6 0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs746686166
rs746686166
COX5B
4 0.925 0.280 2 97646179 missense variant G/A;T snv 6.7E-06 0.010 1.000 1 2008 2008