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: rs1057518933
rs1057518933
5 0.851 0.160 3 122284403 missense variant G/A snv 0.700 0
dbSNP: rs1057519051
rs1057519051
3 0.882 0.200 5 132390825 stop gained T/G snv 0.700 0
dbSNP: rs1060499604
rs1060499604
4 0.851 0.080 11 47339323 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1060501452
rs1060501452
1 1.000 0.040 14 23429304 missense variant G/T snv 0.700 0
dbSNP: rs1060501478
rs1060501478
1 1.000 0.040 11 47338549 frameshift variant T/- del 0.700 0
dbSNP: rs1060501479
rs1060501479
1 1.000 0.040 11 47351465 frameshift variant -/C ins 0.700 0
dbSNP: rs1060501480
rs1060501480
1 1.000 0.040 11 47332221 frameshift variant C/- delins 0.700 0
dbSNP: rs1060501481
rs1060501481
1 1.000 0.040 11 47337420 frameshift variant -/TT delins 0.700 0
dbSNP: rs1064792936
rs1064792936
1 1.000 0.040 11 47351272 frameshift variant TGG/CCTCC delins 0.700 0
dbSNP: rs113276889
rs113276889
1 1.000 0.040 11 47343146 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs121912683
rs121912683
9 0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121913648
rs121913648
2 0.925 0.160 14 23416105 inframe deletion TTC/- delins 0.700 0
dbSNP: rs121913651
rs121913651
2 0.925 0.080 14 23428631 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121917760
rs121917760
2 0.925 0.040 19 55154148 missense variant A/G;T snv 0.700 0
dbSNP: rs1265248322
rs1265248322
1 1.000 0.040 11 47335874 splice donor variant CA/- delins 0.700 0
dbSNP: rs148808089
rs148808089
4 0.882 0.080 14 23429038 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1555120937
rs1555120937
1 1.000 0.040 11 47335940 frameshift variant -/CGCCACTTGAGGGAGACCGTGGTGTC delins 0.700 0
dbSNP: rs1555121172
rs1555121172
1 1.000 0.040 11 47337425 frameshift variant C/- delins 0.700 0
dbSNP: rs1555122751
rs1555122751
1 1.000 0.040 11 47346243 frameshift variant CTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGTGCCT/- delins 0.700 0
dbSNP: rs1555122811
rs1555122811
1 1.000 0.040 11 47346622 splice donor variant ACCTC/- delins 0.700 0
dbSNP: rs1555123438
rs1555123438
1 1.000 0.040 11 47349921 splice region variant -/CTGC delins 0.700 0
dbSNP: rs1555123629
rs1555123629
1 1.000 0.040 11 47350591 frameshift variant G/- delins 0.700 0
dbSNP: rs1555123633
rs1555123633
1 1.000 0.040 11 47350599 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs1555336492
rs1555336492
1 1.000 0.040 14 23416309 missense variant A/G snv 0.700 0