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: rs746800707
rs746800707
8 0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs63750427
rs63750427
6 0.882 0.200 16 16163158 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs72664233
rs72664233
10 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0
dbSNP: rs1285524167
rs1285524167
8 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs375761361
rs375761361
9 0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs864309499
rs864309499
9 0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1060499738
rs1060499738
2 1.000 7 100647014 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1131692228
rs1131692228
5 0.925 0.160 7 100646637 missense variant C/T snv 0.700 0
dbSNP: rs1567815105
rs1567815105
7 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
dbSNP: rs587776625
rs587776625
12 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
dbSNP: rs1057518345
rs1057518345
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs886041116
rs886041116
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
dbSNP: rs1131692272
rs1131692272
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs1564069651
rs1564069651
2 1.000 9 85619123 missense variant T/C snv 0.700 0
dbSNP: rs1564069807
rs1564069807
3 0.925 0.040 9 85619213 splice donor variant A/C snv 0.700 0
dbSNP: rs587779766
rs587779766
7 0.851 0.200 1 27549742 frameshift variant CA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779767
rs587779767
7 0.851 0.200 1 27549218 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779768
rs587779768
7 0.851 0.200 1 27549569 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121434350
rs121434350
3 0.882 0.240 6 135455750 missense variant A/T snv 0.700 0
dbSNP: rs587776935
rs587776935
7 0.827 0.120 1 243505296 missense variant G/A snv 0.700 0
dbSNP: rs863225045
rs863225045
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs398122394
rs398122394
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1569508922
rs1569508922
5 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0
dbSNP: rs1560162116
rs1560162116
5 0.882 0.080 3 184242930 missense variant T/C snv 0.700 0
dbSNP: rs1560164682
rs1560164682
5 0.882 0.080 3 184245709 splice region variant T/C snv 0.700 0