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: rs4779584
rs4779584 		16 0.732 0.160 15 32702555 intergenic variant T/C snv 0.67 0.700 1.000 4 2008 2015
dbSNP: rs6066825
rs6066825
PREX1
10 0.776 0.080 20 48723580 intron variant A/G;T snv 0.700 1.000 4 2015 2019
dbSNP: rs647161
rs647161
C5orf66
10 0.776 0.080 5 135163402 intron variant C/A snv 0.63 0.700 1.000 4 2013 2019
dbSNP: rs961253
rs961253 		15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.700 1.000 4 2008 2019
dbSNP: rs10411210
rs10411210
RHPN2
13 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.700 1.000 3 2008 2019
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 3 2006 2016
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 3 2019 2019
dbSNP: rs11190164
rs11190164 		10 0.776 0.080 10 99591947 intergenic variant A/G snv 0.19 0.700 1.000 3 2015 2019
dbSNP: rs121913284
rs121913284
PIK3CA
11 0.776 0.160 3 179203765 missense variant T/A;G snv 0.700 1.000 3 2009 2016
dbSNP: rs121913287
rs121913287
PIK3CA
12 0.752 0.400 3 179199088 missense variant G/A snv 0.700 1.000 3 2009 2016
dbSNP: rs12241008
rs12241008
VTI1A
16 0.716 0.160 10 112520943 intron variant T/C snv 0.13 0.700 1.000 3 2014 2019
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 1998 2005
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.700 1.000 3 2014 2016
dbSNP: rs2427308
rs2427308
CABLES2
10 0.790 0.080 20 62394395 intron variant C/T snv 0.22 0.700 1.000 3 2014 2019
dbSNP: rs2450115
rs2450115
LOC105375712
9 0.790 0.080 8 116611854 intergenic variant T/C snv 0.19 0.700 1.000 3 2016 2019
dbSNP: rs2735940
rs2735940
TERT
25 0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 0.700 1.000 3 2019 2019
dbSNP: rs4444235
rs4444235 		23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.700 1.000 3 2008 2019
dbSNP: rs4813802
rs4813802 		11 0.776 0.080 20 6718948 regulatory region variant T/G snv 0.28 0.700 1.000 3 2019 2019
dbSNP: rs6469656
rs6469656 		9 0.790 0.080 8 116635549 regulatory region variant G/A;C snv 0.700 1.000 3 2014 2019
dbSNP: rs7014346
rs7014346
POU5F1B ; CASC8 ; PCAT1
14 0.732 0.240 8 127412547 intron variant A/G snv 0.63 0.700 1.000 3 2008 2016
dbSNP: rs73376930
rs73376930
GREM1 ; LOC100131315
9 0.790 0.080 15 32720301 intron variant A/G snv 0.25 0.700 1.000 3 2014 2019
dbSNP: rs1035209
rs1035209 		9 0.790 0.080 10 99585609 intergenic variant C/T snv 0.15 0.700 1.000 2 2014 2019
dbSNP: rs1057519754
rs1057519754
AKT2
1 19 40236313 missense variant T/C snv 0.700 1.000 2 2005 2014
dbSNP: rs10849432
rs10849432
LOC105369625
9 0.790 0.080 12 6276561 intergenic variant C/T snv 0.84 0.700 1.000 2 2014 2016
dbSNP: rs10911251
rs10911251
LAMC1
9 0.790 0.080 1 183112059 intron variant A/C snv 0.37 0.700 1.000 2 2013 2019