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: rs1554887097
rs1554887097
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
dbSNP: rs113994099
rs113994099
10 0.827 0.240 15 89320883 missense variant T/C snv 0.020 1.000 2 2007 2007
dbSNP: rs104894632
rs104894632
2 0.925 0.200 17 64477929 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1057521899
rs1057521899
TK2
2 1.000 0.200 16 66512039 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1085307937
rs1085307937
2 0.925 0.200 10 100989835 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121918055
rs121918055
2 0.925 0.200 15 89326965 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1380006580
rs1380006580
1 1.000 0.200 3 98591126 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1408088932
rs1408088932
1 1.000 0.200 10 100988626 missense variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1463467386
rs1463467386
1 1.000 0.200 15 89327059 missense variant T/C;G snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs17850455
rs17850455
1 1.000 0.200 17 64480334 missense variant C/G snv 1.0E-02 1.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs28999114
rs28999114
2 0.925 0.200 4 185144963 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs758026634
rs758026634
5 0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs762436636
rs762436636
1 1.000 0.200 10 100993419 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016