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: rs104894398
rs104894398
10 0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06 0.700 0
dbSNP: rs104894408
rs104894408
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
dbSNP: rs104894409
rs104894409
6 0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 0.700 0
dbSNP: rs1057516342
rs1057516342
3 0.925 0.200 10 53995732 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1057516953
rs1057516953
3 0.925 0.160 7 107663412 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1057517303
rs1057517303
3 0.925 0.160 7 107710192 stop gained T/A;C snv 0.700 0
dbSNP: rs1057517519
rs1057517519
3 0.925 0.120 13 20189523 missense variant A/G snv 0.700 0
dbSNP: rs1057517966
rs1057517966
3 0.925 0.160 3 69959325 stop gained C/T snv 0.700 0
dbSNP: rs1057518799
rs1057518799
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057518810
rs1057518810
1 7 107663430 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs1057518840
rs1057518840
1 2 26476319 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057518908
rs1057518908
6 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
dbSNP: rs1057519338
rs1057519338
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1057519438
rs1057519438
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs1060499733
rs1060499733
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1060499791
rs1060499791
2 1.000 0.120 10 71617295 missense variant C/T snv 0.700 0
dbSNP: rs111033190
rs111033190
3 0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 4.0E-06 0.700 0
dbSNP: rs111033220
rs111033220
4 0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04 0.700 0
dbSNP: rs111033253
rs111033253
4 0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04 0.700 0
dbSNP: rs111033294
rs111033294
10 0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04 0.700 0
dbSNP: rs111033295
rs111033295
4 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 0
dbSNP: rs111033297
rs111033297
2 1.000 0.120 13 20189413 stop gained G/A snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs111033299
rs111033299
10 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
dbSNP: rs111033305
rs111033305
4 0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06 0.700 0
dbSNP: rs111033312
rs111033312
4 0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06 0.700 0