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: rs114368325
rs114368325
4 0.925 0.120 20 54158136 missense variant G/A;C snv 6.6E-04; 8.0E-06 0.700 1.000 2 2011 2011
dbSNP: rs104893726
rs104893726
3 0.882 0.200 3 190408416 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs121908523
rs121908523
3 0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs121908525
rs121908525
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs121964880
rs121964880
4 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs142772770
rs142772770
1 1.000 0.120 5 177387765 missense variant T/C snv 1.6E-05 1.4E-05 0.700 1.000 1 2018 2018
dbSNP: rs145591298
rs145591298
2 0.925 0.120 1 42735969 missense variant C/T snv 1.1E-05 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs1555466999
rs1555466999
2 0.925 0.120 15 48244876 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs180177161
rs180177161
3 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 1 2018 2018
dbSNP: rs180177227
rs180177227
3 0.882 0.160 2 240871406 missense variant G/A;C;T snv 1.8E-05; 1.3E-05 0.700 1.000 1 2018 2018
dbSNP: rs201304511
rs201304511
3 0.882 0.120 5 177387874 splice donor variant G/A snv 7.8E-05 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs201331677
rs201331677
2 0.925 0.120 5 177398090 missense variant C/T snv 3.2E-05 2.8E-05 0.700 1.000 1 2018 2018
dbSNP: rs376131751
rs376131751
2 0.925 0.120 5 177396762 missense variant G/C snv 2.8E-05 1.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs757796926
rs757796926
2 0.925 0.120 9 37426659 splice region variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs778000327
rs778000327
2 0.925 0.120 2 44280877 frameshift variant G/- del 2.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs779588655
rs779588655
3 0.882 0.160 15 48234946 frameshift variant T/- delins 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs80356708
rs80356708
3 0.882 0.160 9 37424862 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs896545456
rs896545456
2 0.925 0.120 15 48229233 missense variant G/A snv 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs780813696
rs780813696
5 0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014