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: rs1251443902
rs1251443902
1 1.000 0.120 9 6645372 frameshift variant T/- del 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs1259354298
rs1259354298
1 1.000 0.120 9 6550916 splice acceptor variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1399754800
rs1399754800
1 1.000 0.120 9 6587140 splice donor variant C/- delins 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1430968530
rs1430968530
1 1.000 0.120 9 6540102 stop gained T/A snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554641737
rs1554641737
1 1.000 0.120 9 6534738 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs1554641887
rs1554641887
1 1.000 0.120 9 6536062 splice donor variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554643360
rs1554643360
1 1.000 0.120 9 6550845 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1554643738
rs1554643738
1 1.000 0.120 9 6554667 splice donor variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554646529
rs1554646529
1 1.000 0.120 9 6587268 stop gained C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs373618804
rs373618804
1 1.000 0.120 9 6553508 stop gained T/A snv 4.0E-06 7.6E-06 0.700 1.000 1 2017 2017
dbSNP: rs386833560
rs386833560
1 1.000 0.120 9 6550883 missense variant G/A snv 2.4E-05 3.5E-05 0.700 1.000 1 2017 2017
dbSNP: rs386833574
rs386833574
1 1.000 0.120 9 6645472 frameshift variant G/- del 0.700 1.000 1 2006 2006
dbSNP: rs386833575
rs386833575
1 1.000 0.120 9 6534707 splice donor variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 1 2006 2006
dbSNP: rs386833586
rs386833586
1 1.000 0.120 9 6605199 frameshift variant G/- delins 4.0E-06 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs570097430
rs570097430
1 1.000 0.120 9 6602156 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs751025203
rs751025203
1 1.000 0.120 9 6565392 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs751822565
rs751822565
1 1.000 0.120 9 6588631 missense variant C/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs759133707
rs759133707
1 1.000 0.120 9 6602119 missense variant C/T snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs766762760
rs766762760
1 1.000 0.120 9 6550888 frameshift variant GTTT/- delins 1.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs769625871
rs769625871
1 1.000 0.120 9 6558576 inframe deletion TGC/- delins 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs772068893
rs772068893
1 1.000 0.120 9 6565410 frameshift variant -/AT delins 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs774099283
rs774099283
1 1.000 0.120 9 6587140 splice donor variant C/A;G snv 2.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs777365335
rs777365335
1 1.000 0.120 9 6592910 stop gained C/A;G snv 2.8E-05 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs978795483
rs978795483
1 1.000 0.120 9 6644613 splice donor variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1183976692
rs1183976692
1 1.000 0.120 9 6602164 missense variant G/A snv 0.700 0