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: rs180177314
rs180177314
2 0.925 0.160 9 37429732 missense variant G/A snv 1.2E-04 4.2E-05 0.700 1.000 4 2000 2015
dbSNP: rs180177319
rs180177319
1 1.000 0.160 9 37424843 splice acceptor variant A/G snv 0.700 1.000 3 2003 2015
dbSNP: rs180177307
rs180177307
1 1.000 0.160 9 37426587 stop gained G/A;T snv 4.0E-06 0.700 1.000 2 2007 2015
dbSNP: rs121908525
rs121908525
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs180177304
rs180177304
1 1.000 0.160 9 37424863 stop gained G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs180177313
rs180177313
1 1.000 0.160 9 37428574 splice donor variant T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs180177317
rs180177317
1 1.000 0.160 9 37432007 splice acceptor variant G/A snv 1.6E-05 0.700 1.000 1 2000 2000
dbSNP: rs1057517398
rs1057517398
1 1.000 0.160 9 37424977 splice donor variant T/G snv 0.700 0
dbSNP: rs111256477
rs111256477
1 1.000 0.160 9 37429837 splice donor variant G/C;T snv 8.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs119490108
rs119490108
2 0.925 0.160 9 37426545 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1244822375
rs1244822375
1 1.000 0.160 9 37424976 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1422977131
rs1422977131
1 1.000 0.160 9 37430510 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1554746094
rs1554746094
1 1.000 0.160 9 37422751 start lost A/G;T snv 0.700 0
dbSNP: rs1554746097
rs1554746097
1 1.000 0.160 9 37422752 start lost T/G snv 0.700 0
dbSNP: rs180177305
rs180177305
1 1.000 0.160 9 37424964 missense variant T/C snv 8.1E-06 0.700 0
dbSNP: rs180177312
rs180177312
1 1.000 0.160 9 37428557 missense variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs180177322
rs180177322
1 1.000 0.160 9 37436699 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs180177323
rs180177323
1 1.000 0.160 9 37436700 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs180177324
rs180177324
1 1.000 0.160 9 37436729 missense variant A/G snv 0.700 0
dbSNP: rs180177325
rs180177325
1 1.000 0.160 9 37436760 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs779208888
rs779208888
1 1.000 0.160 9 37428483 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs796052078
rs796052078
1 1.000 0.160 9 37425994 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs796052079
rs796052079
1 1.000 0.160 9 37432016 missense variant T/A snv 7.0E-06 0.700 0
dbSNP: rs80356708
rs80356708
3 0.882 0.160 9 37424862 frameshift variant G/- delins 0.700 1.000 5 1999 2008
dbSNP: rs180177309
rs180177309
1 1.000 0.160 9 37426653 splice region variant AAGT/- delins 2.8E-05 7.0E-06 0.700 1.000 1 2003 2003