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: rs1057517558
rs1057517558
APC
3 0.882 0.120 5 112839549 frameshift variant C/- delins 0.700 0
dbSNP: rs1131691039
rs1131691039
TP53
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1554082118
rs1554082118
APC
1 1.000 0.080 5 112828907 frameshift variant A/- delins 0.700 0
dbSNP: rs749415085
rs749415085
PIK3CA
7 0.807 0.160 3 179198937 missense variant C/A;G;T snv 0.700 0
dbSNP: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
dbSNP: rs10049390
rs10049390
SLCO2A1
10 0.776 0.080 3 133982275 intron variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10152518
rs10152518 		9 0.790 0.080 15 67884824 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1028166
rs1028166
TENM3 ; TENM3-AS1
9 0.790 0.080 4 181892145 intron variant G/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs10457678
rs10457678
ECT2L
10 0.790 0.080 6 138801103 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs10506868
rs10506868
VTI1A
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs10511330
rs10511330
ZBTB20
10 0.776 0.080 3 114402172 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs10821907
rs10821907 		12 0.776 0.080 10 50888694 upstream gene variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10849433
rs10849433
LOC105369624
10 0.776 0.080 12 6297738 regulatory region variant T/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10849438
rs10849438 		9 0.790 0.080 12 6302870 intergenic variant T/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs10904849
rs10904849
CUBN
9 0.790 0.080 10 16955267 intron variant G/A;T snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.700 1.000 1 2010 2010
dbSNP: rs10951878
rs10951878 		9 0.790 0.080 7 46887097 downstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10980628
rs10980628
LPAR1
10 0.776 0.080 9 110909123 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11064437
rs11064437
SPSB2
9 0.790 0.080 12 6872998 splice acceptor variant C/T snv 9.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11085466
rs11085466
LOC101929007
10 0.790 0.080 19 21569009 intron variant G/C snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs11087784
rs11087784 		10 0.776 0.080 20 7760329 intergenic variant A/G snv 0.13 0.700 1.000 1 2019 2019