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: rs1555817157
rs1555817157
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs1057518895
rs1057518895
4 1.000 0.120 X 130137134 start lost A/G snv 0.700 0
dbSNP: rs104894334
rs104894334
4 0.851 0.200 12 49954233 missense variant G/A snv 5.3E-05 7.7E-05 0.010 1.000 1 2000 2000
dbSNP: rs1555661648
rs1555661648
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1318358361
rs1318358361
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs200455852
rs200455852
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs61736451
rs61736451
1 1.000 0.120 3 10359892 missense variant C/A;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs10258719
rs10258719
2 0.925 0.280 7 138771243 missense variant A/C;G;T snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs74315289
rs74315289
5 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2003 2003
dbSNP: rs549556142
rs549556142
2 0.925 0.120 1 100484347 stop gained C/A;T snv 1.6E-04; 4.1E-06 0.700 0
dbSNP: rs876661408
rs876661408
2 0.925 0.120 1 100484440 stop gained C/T snv 4.3E-06 0.700 0
dbSNP: rs1250745641
rs1250745641
1 1.000 0.120 10 71807866 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1057517694
rs1057517694
3 0.882 0.200 9 78248290 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517695
rs1057517695
3 0.882 0.200 9 78241729 frameshift variant T/- delins 0.700 0
dbSNP: rs1558939623
rs1558939623
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs144948296
rs144948296
3 0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04 0.700 0
dbSNP: rs121908930
rs121908930
3 0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs28938175
rs28938175
6 0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs745434198
rs745434198
1 1.000 0.120 6 33165983 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1569492161
rs1569492161
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs281874674
rs281874674
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
dbSNP: rs762356974
rs762356974
1 1.000 0.120 5 141573742 missense variant G/A;C;T snv 1.6E-05; 2.2E-05; 2.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs775146972
rs775146972
1 1.000 0.120 5 141573787 missense variant G/A;C snv 6.8E-06 0.010 1.000 1 2008 2008
dbSNP: rs876657776
rs876657776
2 0.925 0.160 5 141524167 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs758723288
rs758723288
4 0.882 0.120 10 133370686 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016