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: rs11150038
rs11150038
CLEC3A
10 0.790 0.080 16 78042662 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs387906678
rs387906678
FGFR2
5 0.851 0.120 10 121515263 missense variant A/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913396
rs121913396
CTNNB1
13 0.732 0.200 3 41224607 missense variant A/C;G;T snv 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: rs11263763
rs11263763
HNF1B
6 0.882 0.200 17 37743574 intron variant A/G snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs17503919
rs17503919
RNGTT
10 0.790 0.080 6 88856018 intron variant A/G snv 9.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs4430796
rs4430796
HNF1B
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs6051080
rs6051080
FAM182A
10 0.790 0.080 20 25995038 intron variant A/G snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs76225372
rs76225372 		10 0.790 0.080 10 19031157 intergenic variant A/G snv 7.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs1057519854
rs1057519854
FGFR2
7 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs3181245
rs3181245
TDP2
10 0.790 0.080 6 24651092 intron variant C/G snv 0.42 0.46 0.700 1.000 1 2015 2015
dbSNP: rs9901225
rs9901225
RETREG3
10 0.790 0.080 17 42603793 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs17035310
rs17035310 		10 0.790 0.080 4 105143597 upstream gene variant C/T snv 0.14 0.700 1.000 1 2015 2015
dbSNP: rs4727012
rs4727012 		10 0.790 0.080 7 149043401 intergenic variant C/T snv 0.12 0.700 1.000 1 2015 2015
dbSNP: rs12970291
rs12970291 		12 0.763 0.120 18 75305279 intergenic variant G/A snv 2.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs2052678
rs2052678
TMTC1
10 0.790 0.080 12 29680396 intron variant G/A snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 2 2011 2014
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs28931588
rs28931588
CTNNB1
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 1 2014 2014
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: rs7740797
rs7740797
SCAF8
10 0.790 0.080 6 154800125 intron variant G/C snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs121913477
rs121913477
FGFR2
2 1.000 0.120 10 121515289 missense variant G/C;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1057520029
rs1057520029
FGFR2
4 0.925 0.120 10 121488003 missense variant T/A snv 0.700 1.000 1 2007 2007
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2015 2015