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: rs1057519789
rs1057519789
DDR2
1 1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1057519790
rs1057519790
DDR2
1 1.000 0.080 1 162778617 missense variant G/T snv 0.700 1.000 1 2011 2011
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: rs1060501327
rs1060501327
MUTYH
4 0.851 0.080 1 45332251 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs112233273
rs112233273 		1 1.000 0.080 1 160908636 intergenic variant G/A snv 4.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs144594252
rs144594252
DDR2
3 0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 0.700 1.000 1 2011 2011
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs201701502
rs201701502
DDR2
5 0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs34192549
rs34192549
EPHA2
1 1.000 0.080 1 16137994 missense variant C/G;T snv 2.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs376303676
rs376303676
DDR2
1 1.000 0.080 1 162759881 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs578015216
rs578015216
DDR2
1 1.000 0.080 1 162759840 missense variant T/C;G snv 2.8E-05 0.700 1.000 1 2011 2011
dbSNP: rs78359677
rs78359677
LRRC8D
1 1.000 0.080 1 89907211 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10174077
rs10174077
NEB
1 1.000 0.080 2 151625198 intron variant C/T snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs1057519920
rs1057519920
NFE2L2
7 0.790 0.160 2 177234232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
7 0.790 0.200 2 177234082 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519923
rs1057519923
NFE2L2
6 0.807 0.200 2 177234081 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
6 0.807 0.200 2 177234080 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs185815317
rs185815317
IL1RL2
1 1.000 0.080 2 102241279 downstream gene variant G/T snv 1.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs840781
rs840781 		1 1.000 0.080 2 65605243 intron variant C/A snv 0.99 0.700 1.000 1 2018 2018
dbSNP: rs370004591
rs370004591
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.080 2 178776789 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 1999 1999