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: rs1568955379
rs1568955379
1 1.000 0.040 22 31804211 frameshift variant C/- delins 0.700 0
dbSNP: rs1568963062
rs1568963062
1 1.000 0.040 22 31806179 frameshift variant CAGG/- delins 0.700 0
dbSNP: rs1568991466
rs1568991466
1 1.000 0.040 22 31814999 stop gained C/T snv 0.700 0
dbSNP: rs1569012755
rs1569012755
1 1.000 0.040 22 31821566 frameshift variant -/A delins 0.700 0
dbSNP: rs1569067939
rs1569067939
1 1.000 0.040 22 31838842 stop gained C/T snv 0.700 0
dbSNP: rs1569083500
rs1569083500
1 1.000 0.040 22 31843705 frameshift variant CTCAGAGTTC/GGACA delins 0.700 0
dbSNP: rs1569166925
rs1569166925
1 1.000 0.040 22 31873316 frameshift variant G/- del 0.700 0
dbSNP: rs1569523728
rs1569523728
1 1.000 0.040 22 31797616 frameshift variant GA/- delins 0.700 0
dbSNP: rs374158137
rs374158137
1 1.000 0.040 22 31837126 stop gained T/A;C snv 2.4E-05 9.1E-05 0.700 0
dbSNP: rs587776975
rs587776975
2 0.925 0.040 22 31893655 stop gained G/A snv 0.700 0
dbSNP: rs757609394
rs757609394
1 1.000 0.040 22 31857483 missense variant A/G snv 3.3E-05 0.700 0
dbSNP: rs768456731
rs768456731
2 0.925 0.040 22 31765049 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs886039248
rs886039248
1 1.000 0.040 22 31778139 frameshift variant AT/- del 0.700 0
dbSNP: rs886039260
rs886039260
1 1.000 0.040 22 31810589 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs886039262
rs886039262
1 1.000 0.040 22 31819101 frameshift variant CTGCATG/- delins 0.700 0
dbSNP: rs886039272
rs886039272
1 1.000 0.040 22 31897538 frameshift variant G/- delins 0.700 0
dbSNP: rs1261611694
rs1261611694
1 1.000 0.040 22 31873333 splice donor variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 2 2013 2013
dbSNP: rs1556526609
rs1556526609
1 1.000 0.040 22 31766584 splice acceptor variant G/A snv 0.700 1.000 2 2013 2013
dbSNP: rs587776974
rs587776974
1 1.000 0.040 22 31783911 inframe deletion GTT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs587776977
rs587776977
1 1.000 0.040 22 31802739 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs797044546
rs797044546
2 0.925 0.040 22 31906252 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs879255234
rs879255234
1 1.000 0.040 22 31804202 frameshift variant A/- del 0.700 1.000 1 2013 2013
dbSNP: rs886039259
rs886039259
1 1.000 0.040 22 31804194 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs886039268
rs886039268
2 0.925 0.040 22 31876262 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs886039273
rs886039273
1 1.000 0.040 22 31901763 stop gained G/A snv 0.700 1.000 1 2013 2013