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: rs1131690789
rs1131690789
2 1.000 X 47181316 frameshift variant AG/- delins 0.700 0
dbSNP: rs1281877795
rs1281877795
2 1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins 0.700 0
dbSNP: rs1553535063
rs1553535063
1 2 201085517 frameshift variant T/- delins 0.700 0
dbSNP: rs1553878198
rs1553878198
2 1.000 4 26406245 missense variant C/G snv 0.700 0
dbSNP: rs1555605893
rs1555605893
1 17 40637502 missense variant T/C snv 0.700 0
dbSNP: rs1555918056
rs1555918056
1 X 40072918 stop gained G/A snv 0.700 0
dbSNP: rs1557189252
rs1557189252
2 1.000 X 54465532 missense variant G/A snv 0.700 0
dbSNP: rs1563183469
rs1563183469
3 0.925 0.120 7 70766245 missense variant A/C snv 0.700 0
dbSNP: rs779617179
rs779617179
1 2 205763747 frameshift variant T/- del 7.0E-06 0.700 0
dbSNP: rs137853063
rs137853063
4 0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1553284965
rs1553284965
1 1 92833459 splice donor variant G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs1553353206
rs1553353206
3 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554865146
rs1554865146
1 10 100809207 stop gained C/G snv 0.700 1.000 1 2014 2014
dbSNP: rs398123009
rs398123009
19 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs786205154
rs786205154
3 1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797044859
rs797044859
1 6 157200765 frameshift variant AT/- del 0.700 1.000 1 2015 2015
dbSNP: rs797044890
rs797044890
1 16 89275092 splice donor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044919
rs797044919
1 8 60845364 frameshift variant -/C delins 0.700 1.000 1 2015 2015
dbSNP: rs869312953
rs869312953
5 0.851 0.120 1 64846735 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1462161137
rs1462161137
3 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs1555933851
rs1555933851
2 1.000 X 64919152 frameshift variant -/G delins 0.700 1.000 2 2013 2015
dbSNP: rs267607387
rs267607387
2 1.000 0.080 17 40866802 missense variant T/C snv 0.700 1.000 2 1997 2008
dbSNP: rs750803248
rs750803248
1 10 71646592 frameshift variant -/G delins 0.700 1.000 2 2001 2001
dbSNP: rs797044863
rs797044863
3 1.000 X 64921894 stop gained G/A snv 0.700 1.000 2 2013 2015
dbSNP: rs866435331
rs866435331
1 10 71712685 stop gained C/T snv 0.700 1.000 2 2001 2001