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: rs137854432
rs137854432
TK2
2 0.925 0.040 16 66541951 missense variant G/C snv 0.010 1.000 1 2002 2002
dbSNP: rs773398906
rs773398906
DGKE ; C17orf67
1 1.000 0.040 17 56834864 missense variant C/A;G;T snv 2.8E-05; 8.0E-06; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1373426298
rs1373426298
IGFALS ; SPSB3
1 1.000 0.040 16 1792059 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs774994509
rs774994509
SOD1
5 0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs74315431
rs74315431
VAPB
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs755642199
rs755642199
MATR3
1 1.000 0.040 5 139322873 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018