Source: ALL
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: rs1131691143
rs1131691143
APC
3 0.925 0.120 5 112838394 frameshift variant TTAC/- delins 0.700 0
dbSNP: rs1554085307
rs1554085307
APC
1 1.000 0.120 5 112839380 stop gained TT/- del 0.700 0
dbSNP: rs1554086327
rs1554086327
APC
1 1.000 0.120 5 112840545 frameshift variant TT/- delins 0.700 0
dbSNP: rs1554085005
rs1554085005
APC
2 0.925 0.120 5 112839038 frameshift variant TGAA/- del 0.700 0
dbSNP: rs1554081906
rs1554081906
APC
1 1.000 0.120 5 112827985 frameshift variant TG/- del 0.700 0
dbSNP: rs1554084698
rs1554084698
APC
1 1.000 0.120 5 112838708 frameshift variant TG/- del 0.700 0
dbSNP: rs1554079988
rs1554079988
APC
1 1.000 0.120 5 112819079 frameshift variant TCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGG/- delins 0.700 0
dbSNP: rs1554071590
rs1554071590
APC
1 1.000 0.120 5 112775698 frameshift variant TCTC/- del 0.700 0
dbSNP: rs587779353
rs587779353
APC
3 0.925 0.120 5 112838793 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs398123118
rs398123118
APC
2 1.000 0.120 5 112838138 frameshift variant TAGA/- delins 0.700 1.000 4 1994 2011
dbSNP: rs1554087515
rs1554087515
APC
1 1.000 0.120 5 112842133 frameshift variant TAGA/- delins 0.700 0
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.060 1.000 6 1998 2015
dbSNP: rs1554084576
rs1554084576
APC
1 1.000 0.120 5 112838488 frameshift variant TA/- delins 0.700 0
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs1554069549
rs1554069549
APC
1 1.000 0.120 5 112766393 stop gained T/G snv 0.700 0
dbSNP: rs1554079128
rs1554079128
APC
1 1.000 0.120 5 112815488 splice region variant T/G snv 0.700 0
dbSNP: rs756807560
rs756807560
APC
1 1.000 0.120 5 112815491 splice region variant T/G snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2229992
rs2229992
APC
6 0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 0.010 1.000 1 2011 2011
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.020 1.000 2 2003 2007
dbSNP: rs1179254201
rs1179254201
APC
2 0.925 0.200 5 112767213 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs56187033
rs56187033
BRCA1
4 0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs935577712
rs935577712
ATXN2
3 0.925 0.200 12 111552304 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1554085479
rs1554085479
APC
1 1.000 0.120 5 112839654 frameshift variant T/AA delins 0.700 0