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: rs1020764190
rs1020764190
2 0.925 0.120 18 12351330 missense variant G/A snv 0.700 0
dbSNP: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs397514477
rs397514477
5 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1555968941
rs1555968941
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
dbSNP: rs2157719
rs2157719
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs779027563
rs779027563
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1555303073
rs1555303073
6 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
dbSNP: rs387906799
rs387906799
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
dbSNP: rs672601363
rs672601363
6 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0
dbSNP: rs672601366
rs672601366
6 0.851 0.120 2 240786339 missense variant C/G snv 0.700 0
dbSNP: rs672601367
rs672601367
7 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
dbSNP: rs672601369
rs672601369
10 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
dbSNP: rs672601370
rs672601370
13 0.790 0.160 2 240775863 missense variant G/A snv 0.700 0
dbSNP: rs672601371
rs672601371
4 0.925 0.080 2 240783791 missense variant A/T snv 0.700 0
dbSNP: rs1057519286
rs1057519286
3 0.882 0.080 1 29196234 stop gained A/C;G snv 0.700 0
dbSNP: rs1057519287
rs1057519287
3 0.882 0.080 1 29216612 frameshift variant TGAT/- delins 0.700 0
dbSNP: rs145192716
rs145192716
3 0.882 0.080 1 29200574 missense variant G/A snv 6.4E-05 6.3E-05 0.700 0
dbSNP: rs756421370
rs756421370
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
dbSNP: rs759218713
rs759218713
3 0.882 0.080 1 29196235 missense variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs762913101
rs762913101
3 0.882 0.080 1 29202004 missense variant C/T snv 7.2E-05 2.1E-05 0.700 0
dbSNP: rs119103265
rs119103265
5 0.827 0.120 1 12002033 missense variant C/T snv 0.020 1.000 2 2006 2011
dbSNP: rs780533096
rs780533096
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs104894270
rs104894270
3 0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs28939714
rs28939714
3 0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013