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: rs1131691232
rs1131691232
1 14 95116453 frameshift variant TTTTC/- delins 0.700 0
dbSNP: rs137852977
rs137852977
2 1.000 0.040 14 95117624 stop gained C/A;G snv 0.700 0
dbSNP: rs1555369579
rs1555369579
1 14 95103871 protein altering variant AATTGCTGTA/T delins 0.700 0
dbSNP: rs1555369632
rs1555369632
1 14 95103943 frameshift variant CA/- delins 0.700 0
dbSNP: rs1555372838
rs1555372838
1 14 95116479 frameshift variant G/- delins 0.700 0
dbSNP: rs1555374817
rs1555374817
1 14 95124611 frameshift variant TTTATCTGCACACC/- delins 0.700 0
dbSNP: rs34678453
rs34678453
2 1.000 0.040 14 95099856 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs377205344
rs377205344
1 14 95096067 stop gained G/A;T snv 2.4E-05 0.700 0
dbSNP: rs754081635
rs754081635
2 1.000 0.040 14 95113166 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs765059994
rs765059994
2 1.000 0.040 14 95099779 splice donor variant C/A;G snv 0.700 0
dbSNP: rs875989783
rs875989783
2 1.000 0.080 14 95103345 splice donor variant C/T snv 0.700 0
dbSNP: rs886037667
rs886037667
2 1.000 0.040 14 95124428 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs886037668
rs886037668
2 1.000 0.040 14 95124385 frameshift variant TCA/G delins 0.700 0
dbSNP: rs886037671
rs886037671
2 1.000 0.040 14 95117723 stop gained C/A snv 0.700 0
dbSNP: rs886037678
rs886037678
2 1.000 0.040 14 95115787 frameshift variant G/- del 0.700 0
dbSNP: rs886037679
rs886037679
2 1.000 0.040 14 95115746 frameshift variant -/CT ins 0.700 0
dbSNP: rs886037680
rs886037680
2 1.000 0.040 14 95115691 frameshift variant ATTG/- delins 0.700 0
dbSNP: rs886037684
rs886037684
2 1.000 0.040 14 95112226 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs886037685
rs886037685
2 1.000 0.040 14 95111414 frameshift variant CA/- delins 0.700 0
dbSNP: rs886037687
rs886037687
2 1.000 0.040 14 95111329 stop gained GC/TT mnv 0.700 0
dbSNP: rs886037689
rs886037689
2 1.000 0.040 14 95111326 stop gained G/T snv 0.700 0
dbSNP: rs886037690
rs886037690
2 1.000 0.040 14 95108367 frameshift variant -/T delins 0.700 0
dbSNP: rs886037692
rs886037692
2 1.000 0.040 14 95107663 stop gained C/A snv 0.700 0
dbSNP: rs886037695
rs886037695
2 1.000 0.040 14 95106139 frameshift variant AG/- del 4.0E-06 0.700 0
dbSNP: rs886037699
rs886037699
2 1.000 0.040 14 95104116 frameshift variant TTAG/- delins 0.700 0