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: rs1555454508
rs1555454508
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1555462347
rs1555462347
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555507479
rs1555507479
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1555661648
rs1555661648
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1556955128
rs1556955128
3 0.882 0.240 X 53573795 missense variant A/C snv 0.700 0
dbSNP: rs1557036768
rs1557036768
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1562114190
rs1562114190
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1562134961
rs1562134961
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1562150844
rs1562150844
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs1562171209
rs1562171209
9 0.851 0.160 6 79003821 missense variant T/C snv 0.700 0
dbSNP: rs1565091862
rs1565091862
4 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
dbSNP: rs1569149539
rs1569149539
3 0.925 0.160 22 42212712 stop gained G/C snv 0.700 0
dbSNP: rs1569151204
rs1569151204
2 0.925 0.160 22 42213495 frameshift variant CA/- delins 0.700 0
dbSNP: rs1569356968
rs1569356968
5 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
dbSNP: rs181109321
rs181109321
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs387906271
rs387906271
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
dbSNP: rs397507542
rs397507542
9 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0
dbSNP: rs762864856
rs762864856
3 0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs770499406
rs770499406
4 0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs775769424
rs775769424
11 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
dbSNP: rs777323132
rs777323132
4 0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 0.700 0
dbSNP: rs886041239
rs886041239
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
dbSNP: rs104894700
rs104894700
2 0.925 0.200 19 50323609 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs122460151
rs122460151
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999