Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519932
PIK3CA
0.683 0.320 3 179234298 missense variant T/G snv 22
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv 20
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 1
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs753660142
TP53
0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 19
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv 17
rs1057519999
TP53
0.763 0.160 17 7674247 missense variant T/C;G snv 12
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv 11
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 10
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 17
rs876660807
TP53
0.763 0.160 17 7674248 missense variant T/C snv 12
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs1057519881
CDKN2A
0.776 0.240 9 21971111 missense variant T/C snv 8
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 7
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs121918094
TTR
0.827 0.280 18 31592921 missense variant T/C snv 1
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 1
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs786203071
TP53
0.776 0.240 17 7675181 missense variant T/A;G snv 8