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: rs1556009247
rs1556009247
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs1567155145
rs1567155145
1 16 2092534 stop gained G/A snv 0.700 0
dbSNP: rs1567159074
rs1567159074
1 16 2094014 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1567202189
rs1567202189
2 1.000 0.080 16 2111276 inframe insertion -/GTG ins 0.700 0
dbSNP: rs181208607
rs181208607
2 1.000 0.120 6 51847966 stop gained G/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs386833760
rs386833760
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
dbSNP: rs386834158
rs386834158
10 0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 0.700 0
dbSNP: rs566014072
rs566014072
3 16 2110321 stop gained C/A;G;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs747483368
rs747483368
3 0.925 0.240 16 2114808 missense variant G/A;C snv 8.1E-06 0.700 0
dbSNP: rs751527253
rs751527253
6 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 0
dbSNP: rs754392766
rs754392766
2 1.000 0.120 6 52058355 stop gained G/A;C snv 0.700 0
dbSNP: rs758522600
rs758522600
7 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
dbSNP: rs770908659
rs770908659
2 1.000 0.120 20 10412556 frameshift variant AG/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs773386777
rs773386777
6 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0
dbSNP: rs777269070
rs777269070
1 16 2090777 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs780009030
rs780009030
2 1.000 0.120 16 2097376 stop gained C/A;T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs786204707
rs786204707
4 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0
dbSNP: rs786205508
rs786205508
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs886039791
rs886039791
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039792
rs886039792
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs886039793
rs886039793
4 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0
dbSNP: rs886039803
rs886039803
3 0.925 0.120 17 58216664 splice donor variant A/T snv 0.700 0
dbSNP: rs886039804
rs886039804
4 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
dbSNP: rs886039805
rs886039805
5 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
dbSNP: rs886039806
rs886039806
8 0.851 0.160 14 58467887 missense variant T/A;C;G snv 0.700 0