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: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057516264
rs1057516264
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1060505029
rs1060505029
5 0.882 0.240 1 109066220 missense variant A/T snv 0.700 0
dbSNP: rs1060505030
rs1060505030
4 0.882 0.240 1 109075001 missense variant A/G;T snv 0.700 0
dbSNP: rs1064797103
rs1064797103
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs1085307845
rs1085307845
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs121917929
rs121917929
3 0.925 0.160 2 166046970 missense variant G/A;T snv 0.700 0
dbSNP: rs1239725461
rs1239725461
4 0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1251778848
rs1251778848
11 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
dbSNP: rs1554196416
rs1554196416
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1554210073
rs1554210073
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1554642022
rs1554642022
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1554901898
rs1554901898
12 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
dbSNP: rs1555055028
rs1555055028
5 0.882 0.160 11 124923996 missense variant G/A snv 0.700 0
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