Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 11
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 10
rs180177133
PALB2
0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 9
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 8
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs1555515731
CDH1
0.882 0.160 16 68812189 frameshift variant T/- delins 4
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 4
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs587780537
CDH1
0.925 0.080 16 68810224 missense variant G/A snv 3
rs746481984
CDH1
0.851 0.120 16 68819393 missense variant C/G;T snv 4.0E-06 3
rs28933369
MIR4728 ; ERBB2
0.925 0.080 17 39724744 missense variant G/A snv 3
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 3
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 3
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs2228145
IL6R
0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 2
rs104894361
KRAS
0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06 2
rs909253
LTA ; LOC100287329
0.641 0.600 6 31572536 intron variant A/G;T snv 2
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 2
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 2
rs398652 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 1
rs28933379
APC
1.000 0.080 5 112838953 missense variant G/A snv 1