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: rs1057518759
rs1057518759
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057518777
rs1057518777
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs1057518800
rs1057518800
2 12 13567228 missense variant C/T snv 0.700 0
dbSNP: rs1057518801
rs1057518801
5 0.851 0.080 2 165130238 missense variant A/G snv 0.700 0
dbSNP: rs1085307135
rs1085307135
5 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
dbSNP: rs1085308043
rs1085308043
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs1135402758
rs1135402758
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs121908869
rs121908869
5 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121913293
rs121913293
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs1554823375
rs1554823375
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs373145711
rs373145711
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs730882240
rs730882240
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs730882249
rs730882249
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs730882250
rs730882250
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs751569508
rs751569508
5 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0
dbSNP: rs864309508
rs864309508
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs886039802
rs886039802
6 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
dbSNP: rs28933386
rs28933386
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
dbSNP: rs104894421
rs104894421
4 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2004 2004