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: rs145364431
rs145364431
1 1.000 12 40322047 missense variant G/A;T snv 8.0E-06; 3.6E-05 0.700 1.000 21 2004 2018
dbSNP: rs199566791
rs199566791
1 1.000 12 40278154 missense variant A/G snv 0.700 1.000 21 2004 2018
dbSNP: rs201271001
rs201271001
1 1.000 12 40351585 missense variant G/A snv 5.2E-05 9.1E-05 0.700 1.000 21 2004 2018
dbSNP: rs34805604
rs34805604
1 1.000 12 40299125 missense variant A/G snv 0.800 1.000 21 2004 2018
dbSNP: rs35602796
rs35602796
1 1.000 12 40323256 missense variant T/C snv 3.5E-04 6.1E-04 0.700 1.000 21 2004 2018
dbSNP: rs33958906
rs33958906
1 1.000 12 40314059 missense variant C/T snv 3.2E-02 3.0E-02 0.700 1.000 20 2004 2018
dbSNP: rs111691891
rs111691891
1 1.000 12 40351579 missense variant C/T snv 4.0E-06 4.9E-05 0.700 1.000 1 2013 2013
dbSNP: rs113511708
rs113511708
1 1.000 12 40363440 missense variant C/T snv 1.6E-04 2.4E-04 0.700 1.000 1 2013 2013
dbSNP: rs281865045
rs281865045
1 1.000 12 40293644 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs281865057
rs281865057
1 1.000 12 40367012 missense variant T/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs60185966
rs60185966
1 1.000 12 40304040 missense variant G/C;T snv 1.4E-04; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs721710
rs721710
1 1.000 12 40315266 missense variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs72547981
rs72547981
1 1.000 12 40351680 missense variant G/A;C;T snv 8.0E-06; 2.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs76535406
rs76535406
1 1.000 12 40298433 missense variant C/G;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs77428810
rs77428810
1 1.000 12 40335031 missense variant G/A snv 1.4E-04 2.2E-04 0.700 1.000 1 2013 2013
dbSNP: rs79546190
rs79546190
1 1.000 12 40363541 missense variant G/A snv 2.8E-05 2.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs281865052
rs281865052
1 1.000 12 40323255 missense variant A/G snv 0.700 0
dbSNP: rs72547983
rs72547983
1 1.000 12 40364975 missense variant C/A;T snv 3.2E-05 0.700 0
dbSNP: rs17466213
rs17466213
2 0.925 0.040 12 40308618 missense variant A/G snv 8.6E-04 5.8E-04 0.700 1.000 21 2004 2018
dbSNP: rs35173587
rs35173587
2 0.925 0.040 12 40284011 missense variant G/A;T snv 4.0E-06; 1.0E-03 0.700 1.000 21 2004 2018
dbSNP: rs111341148
rs111341148
2 0.925 0.040 12 40298346 missense variant G/A snv 3.2E-05 2.1E-05 0.700 1.000 1 2013 2013
dbSNP: rs35658131
rs35658131
2 0.925 0.040 12 40351723 missense variant A/G snv 3.5E-04 5.4E-04 0.700 1.000 1 2013 2013
dbSNP: rs78029637
rs78029637
2 1.000 12 40340436 missense variant A/T snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs281865054
rs281865054
2 0.925 0.040 12 40323270 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs74163686
rs74163686
2 0.925 0.040 12 40309225 missense variant A/C snv 0.700 0