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: rs184953805
rs184953805
8 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs78300695
rs78300695
8 0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057518887
rs1057518887
7 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
dbSNP: rs1057518963
rs1057518963
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs113994152
rs113994152
11 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0
dbSNP: rs1218912272
rs1218912272
8 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs121908681
rs121908681
7 0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05 0.700 0
dbSNP: rs138249161
rs138249161
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs1554823375
rs1554823375
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs1555975523
rs1555975523
5 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0
dbSNP: rs28936415
rs28936415
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs370270828
rs370270828
7 0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs373957300
rs373957300
7 0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs375761808
rs375761808
6 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs534542684
rs534542684
6 0.827 0.240 14 58432439 frameshift variant G/- del 3.1E-03 3.4E-03 0.700 0
dbSNP: rs606231416
rs606231416
7 0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06 0.700 0
dbSNP: rs606231450
rs606231450
7 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs730882243
rs730882243
3 1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del 0.700 0
dbSNP: rs770566897
rs770566897
4 0.882 0.120 14 58444072 frameshift variant AA/- del 2.8E-05 2.1E-05 0.700 0
dbSNP: rs775141057
rs775141057
6 0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs80338700
rs80338700
7 0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs869312685
rs869312685
11 0.807 0.240 3 4815135 missense variant G/A;C snv 0.700 0
dbSNP: rs372318863
rs372318863
3 0.882 0.160 4 121804718 stop gained C/G;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2020 2020
dbSNP: rs541845688
rs541845688
2 0.925 0.160 2 219210782 missense variant C/T snv 4.4E-05 7.0E-06 0.010 < 0.001 1 2016 2016