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: rs1057518635
rs1057518635
2 1.000 13 32340367 frameshift variant ATAG/- delins 0.700 0
dbSNP: rs1057518636
rs1057518636
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs1057518637
rs1057518637
3 1.000 13 32336621 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518638
rs1057518638
2 1.000 13 32339317 stop gained T/A snv 0.700 0
dbSNP: rs1060505051
rs1060505051
2 1.000 17 43091883 frameshift variant AAGTT/- delins 0.700 0
dbSNP: rs1131692035
rs1131692035
2 1.000 13 32332335 stop gained C/G snv 0.700 0
dbSNP: rs1131692162
rs1131692162
1 17 43099781 stop gained C/A snv 0.700 0
dbSNP: rs1215280530
rs1215280530
1 16 67616822 missense variant A/G snv 0.700 0
dbSNP: rs1257401983
rs1257401983
3 1.000 0.120 17 61744445 stop gained G/C snv 0.700 0
dbSNP: rs1553622530
rs1553622530
1 2 214781220 stop gained C/T snv 0.700 0
dbSNP: rs1554897879
rs1554897879
1 10 87931085 stop gained C/A snv 0.700 0
dbSNP: rs1555114766
rs1555114766
1 11 108317486 stop gained G/A snv 0.700 0
dbSNP: rs1555280073
rs1555280073
1 13 32316454 start lost TAAAAATGCCTATTGG/- delins 0.700 0
dbSNP: rs1555281594
rs1555281594
2 1.000 13 32332276 frameshift variant -/G delins 0.700 0
dbSNP: rs1555282830
rs1555282830
2 1.000 13 32337109 frameshift variant C/- del 0.700 0
dbSNP: rs1555283169
rs1555283169
2 1.000 13 32337677 stop gained A/T snv 0.700 0
dbSNP: rs1555458822
rs1555458822
1 16 23614062 frameshift variant T/- delins 0.700 0
dbSNP: rs1555460315
rs1555460315
2 1.000 0.080 16 23629673 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555461693
rs1555461693
1 16 23635903 stop gained C/A snv 0.700 0
dbSNP: rs1555526250
rs1555526250
1 17 7675191 frameshift variant -/GGTCT delins 0.700 0
dbSNP: rs1555581104
rs1555581104
2 1.000 17 43071235 frameshift variant CC/- delins 0.700 0
dbSNP: rs1800747
rs1800747
5 0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 0.700 0
dbSNP: rs28897672
rs28897672
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 0
dbSNP: rs28897696
rs28897696
11 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs28904921
rs28904921
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.700 0