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: rs201088712
rs201088712
1 1.000 13 24906775 missense variant C/G snv 1.6E-04 2.0E-04 0.700 0
dbSNP: rs202058504
rs202058504
2 0.925 0.120 13 24906452 stop gained G/C snv 9.6E-05 1.1E-04 0.700 0
dbSNP: rs749343808
rs749343808
2 0.925 0.120 13 24899538 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs763715733
rs763715733
2 0.925 0.120 13 24885387 splice acceptor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs776528706
rs776528706
1 1.000 13 24884443 inframe insertion -/CTT delins 3.6E-05 3.5E-05 0.700 0
dbSNP: rs777893196
rs777893196
1 1.000 13 24906631 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs797045447
rs797045447
1 1.000 13 24906699 stop gained T/A snv 0.700 0
dbSNP: rs797045448
rs797045448
1 1.000 13 24906187 frameshift variant AG/- del 0.700 0
dbSNP: rs797045449
rs797045449
1 1.000 13 24906156 frameshift variant C/- delins 0.700 0
dbSNP: rs797045450
rs797045450
1 1.000 13 24906069 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs797045452
rs797045452
1 1.000 13 24892851 frameshift variant -/T delins 0.700 0
dbSNP: rs797045454
rs797045454
2 0.925 0.120 13 24908093 frameshift variant CT/- delins 0.700 0
dbSNP: rs864321658
rs864321658
1 1.000 13 24885671 splice acceptor variant C/G snv 0.700 0