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: rs119103267
rs119103267
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.800 1.000 12 2008 2019
dbSNP: rs28940292
rs28940292
4 0.851 0.080 1 12011510 missense variant G/C snv 0.800 1.000 6 2004 2015
dbSNP: rs28940294
rs28940294
3 0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 0.800 1.000 5 2004 2011
dbSNP: rs138382758
rs138382758
2 1.000 0.080 1 12004835 missense variant G/A snv 2.1E-03 2.5E-03 0.700 1.000 5 2004 2011
dbSNP: rs1553144059
rs1553144059
1 1.000 0.080 1 12002071 missense variant G/A snv 0.700 1.000 5 2004 2011
dbSNP: rs28940291
rs28940291
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.700 1.000 5 2004 2011
dbSNP: rs28940293
rs28940293
3 0.882 0.080 1 11992606 missense variant T/C;G snv 8.0E-06 0.700 1.000 5 2004 2011
dbSNP: rs28940295
rs28940295
1 1.000 0.080 1 11999030 missense variant C/G;T snv 0.700 1.000 5 2004 2011
dbSNP: rs28940296
rs28940296
2 0.925 0.080 1 11992584 missense variant G/A;T snv 3.6E-05 0.700 1.000 5 2004 2011
dbSNP: rs879253777
rs879253777
2 0.925 0.080 1 11999009 missense variant G/A;T snv 0.700 1.000 3 2005 2016
dbSNP: rs794729198
rs794729198
1 1.000 0.080 1 11999025 missense variant C/T snv 0.700 1.000 2 2011 2016
dbSNP: rs763492075
rs763492075
1 1.000 0.080 1 12007126 missense variant G/A;C;T snv 2.0E-05 0.700 1.000 1 2015 2015
dbSNP: rs879253861
rs879253861
1 1.000 0.080 1 11997301 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs879253862
rs879253862
1 1.000 0.080 1 11997348 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs879253925
rs879253925
1 1.000 0.080 1 11998823 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs119103261
rs119103261
3 0.882 0.080 1 12002014 missense variant G/C snv 0.700 0
dbSNP: rs119103265
rs119103265
5 0.827 0.120 1 12002033 missense variant C/T snv 0.700 0
dbSNP: rs119103268
rs119103268
6 0.827 0.080 1 11992689 missense variant C/T snv 0.700 0
dbSNP: rs1266361856
rs1266361856
1 1.000 0.080 1 12004858 stop gained C/G;T snv 0.700 0
dbSNP: rs1557522849
rs1557522849
2 0.925 0.080 1 11997319 missense variant C/T snv 0.700 0
dbSNP: rs369140232
rs369140232
1 1.000 0.080 1 12005770 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 0