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: rs879255640
rs879255640
3 0.882 0.040 7 128853831 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs879255639
rs879255639
3 0.882 0.040 7 128848926 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs781135153
rs781135153
3 0.882 0.120 7 128845989 splice acceptor variant G/C snv 1.2E-05 1.4E-05 0.700 1.000 2 2014 2016
dbSNP: rs774945928
rs774945928
3 0.882 0.120 7 128849329 splice acceptor variant A/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs770606675
rs770606675
3 0.882 0.120 7 128841304 stop gained C/G;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: rs763330423
rs763330423
3 0.882 0.120 7 128840159 splice donor variant AAGT/- del 4.0E-06 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: rs749889670
rs749889670
3 0.882 0.120 7 128844656 splice acceptor variant A/G snv 4.1E-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: rs200516164
rs200516164
1 1.000 7 128856555 missense variant C/T snv 1.0E-04 9.8E-05 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: rs1563005607
rs1563005607
3 0.882 0.120 7 128857337 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1563003848
rs1563003848
1 1.000 7 128854628 missense variant C/A snv 0.700 0
dbSNP: rs1563003153
rs1563003153
3 0.882 0.120 7 128853799 frameshift variant C/- delins 0.700 0
dbSNP: rs1563001548
rs1563001548
3 0.882 0.120 7 128851454 coding sequence variant G/- delins 0.700 0
dbSNP: rs1563001456
rs1563001456
3 0.882 0.120 7 128851345 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: rs1562999451
rs1562999451
3 0.882 0.120 7 128848601 stop gained A/T snv 0.700 0
dbSNP: rs1562999443
rs1562999443
1 1.000 7 128848595 missense variant G/A snv 0.700 0
dbSNP: rs1562998858
rs1562998858
3 0.882 0.120 7 128847739 frameshift variant AAGG/- delins 0.700 0
dbSNP: rs1562991776
rs1562991776
3 0.882 0.120 7 128837258 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1562991002
rs1562991002
1 1.000 7 128835341 missense variant T/C snv 0.700 0
dbSNP: rs1562988883
rs1562988883
3 0.882 0.120 7 128830784 frameshift variant C/TCT delins 0.700 0
dbSNP: rs1554401837
rs1554401837
3 0.882 0.120 7 128856895 frameshift variant TCCTGGGCTCGAG/- delins 0.700 0