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: rs28940891
rs28940891
1 1.000 0.080 1 5874946 missense variant A/G snv 0.800 1.000 6 2002 2012
dbSNP: rs139022622
rs139022622
1 1.000 0.080 1 5866443 missense variant G/A snv 1.8E-03 1.7E-03 0.700 1.000 6 2002 2012
dbSNP: rs1433852047
rs1433852047
1 1.000 0.080 1 5887425 missense variant G/A;T snv 3.2E-05 0.700 1.000 6 2002 2012
dbSNP: rs183885357
rs183885357
1 1.000 0.080 1 5875036 missense variant C/T snv 2.4E-03 2.0E-03 0.700 1.000 6 2002 2012
dbSNP: rs201527181
rs201527181
1 1.000 0.080 1 5887444 missense variant G/A;C snv 1.2E-05; 1.6E-04 0.700 1.000 6 2002 2012
dbSNP: rs373962831
rs373962831
1 1.000 0.080 1 5890912 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 6 2002 2012
dbSNP: rs758253306
rs758253306
1 1.000 0.080 1 5927685 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 6 2002 2012
dbSNP: rs747699128
rs747699128
2 0.925 0.160 1 5905456 frameshift variant GAGG/- delins 0.700 1.000 1 2002 2002
dbSNP: rs1278089386
rs1278089386
1 1.000 0.080 1 5873295 frameshift variant A/- del 2.1E-05 0.700 0
dbSNP: rs137852918
rs137852918
1 1.000 0.080 1 5887403 stop gained C/A snv 0.700 0
dbSNP: rs137852919
rs137852919
2 0.925 0.080 1 5887394 stop gained G/A snv 0.700 0
dbSNP: rs137852920
rs137852920
2 1.000 0.080 1 5904716 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs137852923
rs137852923
3 0.882 0.160 1 5904788 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs190940697
rs190940697
1 1.000 0.080 1 5947199 missense variant G/A snv 1.6E-03 1.2E-03 0.700 0
dbSNP: rs191913664
rs191913664
1 1.000 0.080 1 5890969 missense variant G/A snv 4.0E-04 9.5E-04 0.700 0
dbSNP: rs201779243
rs201779243
1 1.000 0.080 1 5864475 missense variant G/C snv 1.5E-04 3.3E-04 0.700 0
dbSNP: rs779755743
rs779755743
1 1.000 0.080 1 5864484 missense variant G/A snv 1.8E-04 9.8E-05 0.700 0