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: rs1057516463
rs1057516463
1 1.000 0.080 1 75761221 frameshift variant C/- del 0.700 0
dbSNP: rs1057516480
rs1057516480
1 1.000 0.080 1 75732860 frameshift variant T/- del 0.700 0
dbSNP: rs1057516485
rs1057516485
1 1.000 0.080 1 75761135 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057516564
rs1057516564
1 1.000 0.080 1 75761125 stop gained C/T snv 0.700 0
dbSNP: rs1057516778
rs1057516778
1 1.000 0.080 1 75724788 start lost A/G snv 0.700 0
dbSNP: rs1057517179
rs1057517179
1 1.000 0.080 1 75732694 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057517411
rs1057517411
1 1.000 0.080 1 75761247 frameshift variant A/- delins 0.700 0
dbSNP: rs113887538
rs113887538
1 1.000 0.080 1 75728489 splice donor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1227800781
rs1227800781
1 1.000 0.080 1 75761231 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1319192670
rs1319192670
1 1.000 0.080 1 75732688 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs1325949559
rs1325949559
1 1.000 0.080 1 75728417 frameshift variant C/- del 0.700 0
dbSNP: rs149678400
rs149678400
1 1.000 0.080 1 75745889 missense variant C/A;T snv 2.9E-04; 4.0E-06 0.700 0
dbSNP: rs1553121887
rs1553121887
1 1.000 0.080 1 75724790 start lost G/C snv 0.700 0
dbSNP: rs1553122996
rs1553122996
1 1.000 0.080 1 75732924 splice donor variant T/G snv 0.700 0
dbSNP: rs1553123857
rs1553123857
1 1.000 0.080 1 75739978 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1553124805
rs1553124805
1 1.000 0.080 1 75745916 splice donor variant T/G snv 0.700 0
dbSNP: rs1553125211
rs1553125211
1 1.000 0.080 1 75749417 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1553125264
rs1553125264
1 1.000 0.080 1 75749536 frameshift variant GCT/CC delins 0.700 0
dbSNP: rs1553127378
rs1553127378
1 1.000 0.080 1 75762691 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1557446524
rs1557446524
1 1.000 0.080 1 75734857 stop gained G/T snv 0.700 0
dbSNP: rs1557457623
rs1557457623
1 1.000 0.080 1 75749504 stop gained GTGACGGAGC/TTTAA delins 0.700 0
dbSNP: rs1557466604
rs1557466604
1 1.000 0.080 1 75761126 missense variant A/T snv 0.700 0
dbSNP: rs398123074
rs398123074
1 1.000 0.080 1 75732869 missense variant T/C snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs747610156
rs747610156
1 1.000 0.080 1 75761160 frameshift variant G/- del 0.700 0
dbSNP: rs749529577
rs749529577
1 1.000 0.080 1 75734838 frameshift variant T/- delins 4.0E-06 0.700 0