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: rs770908659
rs770908659
2 1.000 0.120 20 10412556 frameshift variant AG/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs786205134
rs786205134
3 0.925 0.160 11 111840653 splice donor variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs751527253
rs751527253
6 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 0
dbSNP: rs886039792
rs886039792
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs886039791
rs886039791
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039813
rs886039813
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0
dbSNP: rs1553827236
rs1553827236
7 0.882 0.200 4 15516757 splice donor variant G/A snv 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: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1555444249
rs1555444249
2 1.000 0.120 16 2090140 frameshift variant T/- del 0.700 0
dbSNP: rs777269070
rs777269070
1 16 2090777 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs886040959
rs886040959
2 1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 0.700 0
dbSNP: rs1057518959
rs1057518959
2 16 2091794 missense variant A/G snv 0.700 0
dbSNP: rs1555446033
rs1555446033
2 1.000 0.120 16 2092144 frameshift variant C/- delins 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: rs1555448106
rs1555448106
2 1.000 0.120 16 2097160 frameshift variant A/- del 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: rs1555450475
rs1555450475
2 1.000 0.120 16 2102583 frameshift variant -/G delins 0.700 0
dbSNP: rs1555452400
rs1555452400
2 1.000 0.120 16 2105412 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555452653
rs1555452653
1 16 2105909 frameshift variant -/C delins 0.700 0
dbSNP: rs1555452876
rs1555452876
5 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
dbSNP: rs1555454847
rs1555454847
4 0.882 0.240 16 2109266 inframe deletion CAC/- delins 0.700 0
dbSNP: rs1555454915
rs1555454915
2 1.000 0.120 16 2109358 frameshift variant A/- del 0.700 0