Source: BEFREE ×
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: rs587777220
rs587777220
SCO1
4 0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06 0.710 1.000 1 2013 2013
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
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: 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
dbSNP: rs764427452
rs764427452
FARS2
3 0.851 0.120 6 5545248 missense variant G/A;T snv 7.6E-05 0.010 1.000 1 2014 2014