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: rs1446694237
rs1446694237
3 0.882 0.120 7 128841511 stop gained G/A;T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs748416758
rs748416758
3 0.882 0.120 7 128854661 stop gained C/T snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs1420159591
rs1420159591
3 0.882 0.120 7 128840055 stop gained C/T snv 0.700 0
dbSNP: rs1554397197
rs1554397197
3 0.882 0.120 7 128835417 stop gained G/A snv 0.700 0
dbSNP: rs1554401756
rs1554401756
3 0.882 0.120 7 128856560 stop gained C/T snv 0.700 0
dbSNP: rs1562999451
rs1562999451
3 0.882 0.120 7 128848601 stop gained A/T snv 0.700 0
dbSNP: rs1563000044
rs1563000044
3 0.882 0.120 7 128849348 stop gained C/T snv 0.700 0
dbSNP: rs1563001456
rs1563001456
3 0.882 0.120 7 128851345 stop gained A/T snv 0.700 0
dbSNP: rs199976790
rs199976790
3 0.882 0.120 7 128840603 stop gained C/A;T snv 6.0E-05 8.4E-05 0.700 0
dbSNP: rs755583250
rs755583250
3 0.882 0.120 7 128837503 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs766330686
rs766330686
3 0.882 0.120 7 128846136 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs770606675
rs770606675
3 0.882 0.120 7 128841304 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1114167361
rs1114167361
6 0.827 0.160 7 128845022 missense variant C/T snv 0.700 1.000 2 2011 2015
dbSNP: rs879255639
rs879255639
3 0.882 0.040 7 128848926 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs879255640
rs879255640
3 0.882 0.040 7 128853831 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1131692185
rs1131692185
3 0.882 0.040 7 128845012 missense variant GC/CT mnv 0.700 0
dbSNP: rs1562991002
rs1562991002
1 1.000 7 128835341 missense variant T/C snv 0.700 0
dbSNP: rs1562999443
rs1562999443
1 1.000 7 128848595 missense variant G/A snv 0.700 0
dbSNP: rs1563003848
rs1563003848
1 1.000 7 128854628 missense variant C/A snv 0.700 0
dbSNP: rs200516164
rs200516164
1 1.000 7 128856555 missense variant C/T snv 1.0E-04 9.8E-05 0.700 0
dbSNP: rs1554401581
rs1554401581
3 0.882 0.120 7 128855315 splice donor variant G/A snv 0.700 1.000 2 2016 2016
dbSNP: rs112903432
rs112903432
3 0.882 0.120 7 128842700 splice donor variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1562991776
rs1562991776
3 0.882 0.120 7 128837258 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1563005607
rs1563005607
3 0.882 0.120 7 128857337 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1402879259
rs1402879259
3 0.882 0.120 7 128848974 splice donor variant -/ACGTCACA delins 4.1E-06 1.4E-05 0.700 0