Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553488015
NFE2L2
0.925 0.080 2 177234226 missense variant C/T snv 2
rs1567755946
AXIN2
0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins 2
rs587777627
POLD1
0.807 0.080 19 50406444 missense variant T/C snv 2
rs1057519366
FANCC
1.000 0.080 9 95150014 frameshift variant G/-;GG delins 1
rs1057519367
MFSD4B ; REV3L
1.000 0.080 6 111405476 missense variant T/A snv 8.7E-06 1
rs1057519739
SMAD4
1.000 0.080 18 51065518 missense variant G/A;C snv 1
rs1114167857
MSH2
1.000 0.080 2 47476442 missense variant T/C snv 1
rs119490107
FSBP ; RAD54B
0.925 0.080 8 94399540 missense variant C/A snv 2.8E-05 1
rs121434507
PTPRJ
0.925 0.080 11 48123636 missense variant C/T snv 4.0E-05 6.3E-05 1
rs121434623
PTPN12
0.925 0.080 7 77571160 missense variant A/G snv 1
rs121908500
DLC1
1.000 0.080 8 13099462 missense variant T/C snv 1
rs121908567
AXIN2
1.000 0.080 17 65536345 stop gained C/A;T snv 1
rs121909242
PPARG
0.925 0.080 3 12416825 missense variant A/C snv 1
rs121909243
PPARG
1.000 0.080 3 12416923 stop gained A/T snv 1
rs121913111
FGFR3
1.000 0.080 4 1803725 missense variant G/A snv 1
rs121913317
STK11
1.000 0.080 19 1220503 stop gained G/A;T snv 1
rs121917731
MCC
1.000 0.080 5 113043623 missense variant G/A snv 1
rs121917732
MCC
1.000 0.080 5 113064110 missense variant C/T snv 1.2E-05 1
rs137852930
FLCN
1.000 0.080 17 17227902 missense variant G/C snv 1
rs137853038
EP300
1.000 0.080 22 41137768 stop gained C/T snv 1
rs137853148
PDGFRL
1.000 0.080 8 17589479 missense variant C/T snv 1
rs138551214
EPHB2
0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05 1
rs1553149467
ARID1A
1.000 0.080 1 26731454 stop gained C/G snv 1
rs180177032
BRAF
1.000 0.080 7 140781623 missense variant C/A snv 1
rs180177033
BRAF
1.000 0.080 7 140781620 missense variant A/C snv 1