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: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499733
rs1060499733
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs113994063
rs113994063
5 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs12720458
rs12720458
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1553770577
rs1553770577
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1555454508
rs1555454508
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1557569831
rs1557569831
8 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1567263168
rs1567263168
10 0.851 0.240 16 3729444 missense variant C/T snv 0.700 0
dbSNP: rs1569190079
rs1569190079
10 0.882 0.160 X 19350044 missense variant G/T snv 0.700 0
dbSNP: rs201650281
rs201650281
8 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
dbSNP: rs312262717
rs312262717
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs559979281
rs559979281
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs587777446
rs587777446
11 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs587783772
rs587783772
14 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
dbSNP: rs61751035
rs61751035
6 0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
dbSNP: rs61753219
rs61753219
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs746200792
rs746200792
8 0.925 0.120 1 43437254 inframe deletion TGT/- delins 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs772410450
rs772410450
5 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs782736894
rs782736894
16 0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs863225422
rs863225422
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0