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: rs104894136
rs104894136
4 0.882 0.200 10 102834074 stop gained G/A snv 0.700 0
dbSNP: rs112294663
rs112294663
PHB
1 17 49404263 3 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs118203998
rs118203998
11 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs118203999
rs118203999
4 0.925 0.200 16 23623003 stop gained G/A snv 0.700 0
dbSNP: rs121908698
rs121908698
7 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
dbSNP: rs137853011
rs137853011
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
dbSNP: rs1555284566
rs1555284566
1 13 32340503 frameshift variant -/T delins 0.700 0
dbSNP: rs1555287661
rs1555287661
1 13 32370534 frameshift variant TTCAAAGA/- delins 0.700 0
dbSNP: rs1555288169
rs1555288169
1 13 32376747 frameshift variant -/T delins 0.700 0
dbSNP: rs1555591746
rs1555591746
1 17 43094088 frameshift variant -/A delins 0.700 0
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.700 0
dbSNP: rs180177097
rs180177097
5 0.882 0.080 16 23635519 stop gained G/A snv 0.700 0
dbSNP: rs180177102
rs180177102
3 1.000 0.080 16 23634954 frameshift variant AA/-;A delins 1.8E-04 1.3E-04 0.700 0
dbSNP: rs180177111
rs180177111
7 0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs180177132
rs180177132
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 0
dbSNP: rs180177133
rs180177133
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-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
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587781707
rs587781707
3 1.000 0.080 2 214752472 stop gained G/A;C snv 1.2E-05 0.700 0
dbSNP: rs587781837
rs587781837
3 1.000 0.200 11 108343348 frameshift variant T/- delins 0.700 0
dbSNP: rs587781840
rs587781840
2 16 23623001 frameshift variant T/- delins 0.700 0
dbSNP: rs786203008
rs786203008
3 1.000 0.200 11 108317401 frameshift variant T/- delins 0.700 0
dbSNP: rs879255309
rs879255309
4 0.925 0.200 13 32338238 stop gained C/T snv 0.700 0