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: rs983011713
rs983011713
1 1.000 0.120 5 87379851 splice donor variant G/A snv 0.700 1.000 3 2008 2013
dbSNP: rs1554050230
rs1554050230
1 1.000 0.120 5 87383729 stop gained C/T snv 0.700 1.000 2 2013 2016
dbSNP: rs1561333645
rs1561333645
1 1.000 0.120 5 87389510 stop gained G/T snv 0.700 1.000 2 2013 2018
dbSNP: rs1204340475
rs1204340475
2 0.925 0.120 5 87376941 stop gained C/T snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1554051094
rs1554051094
1 1.000 0.120 5 87390845 frameshift variant CAAA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1561316757
rs1561316757
1 1.000 0.120 5 87369902 splice donor variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1060503438
rs1060503438
1 1.000 0.120 5 87385390 splice donor variant G/A snv 0.700 0
dbSNP: rs1060503439
rs1060503439
1 1.000 0.120 5 87362573 frameshift variant CA/- delins 0.700 0
dbSNP: rs1060503440
rs1060503440
1 1.000 0.120 5 87389522 stop gained C/T snv 0.700 0
dbSNP: rs1060503441
rs1060503441
1 1.000 0.120 5 87331417 frameshift variant CTTAT/- delins 0.700 0
dbSNP: rs1347210621
rs1347210621
1 1.000 0.120 5 87377028 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs1384480619
rs1384480619
1 1.000 0.120 5 87268712 frameshift variant AG/- del 7.0E-06 0.700 0
dbSNP: rs1554044823
rs1554044823
3 0.882 0.120 5 87331464 stop gained C/G snv 0.700 0
dbSNP: rs1554045819
rs1554045819
1 1.000 0.120 5 87341293 frameshift variant -/G delins 0.700 0
dbSNP: rs1554049825
rs1554049825
1 1.000 0.120 5 87379801 frameshift variant -/T delins 0.700 0
dbSNP: rs1554050584
rs1554050584
1 1.000 0.120 5 87386850 frameshift variant C/- delins 0.700 0
dbSNP: rs1561331089
rs1561331089
1 1.000 0.120 5 87386842 frameshift variant GT/- delins 0.700 0
dbSNP: rs201249348
rs201249348
1 1.000 0.120 5 87374837 splice region variant T/C;G snv 3.0E-04 3.8E-04 0.700 0
dbSNP: rs747745016
rs747745016
1 1.000 0.120 5 87369861 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs797044451
rs797044451
2 0.925 0.120 5 87268922 frameshift variant CT/- delins 0.700 0
dbSNP: rs878854569
rs878854569
1 1.000 0.120 5 87379775 frameshift variant -/T delins 0.700 0
dbSNP: rs878854570
rs878854570
1 1.000 0.120 5 87386886 frameshift variant -/TTTTA delins 0.700 0