Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 22
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 19
rs876660754
TP53
0.701 0.360 17 7675095 missense variant C/A;T snv 18
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 14
rs10505477
CASC8 ; PCAT1 ; POU5F1B
0.658 0.400 8 127395198 intron variant A/G snv 0.40 13
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 13
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv 10
rs63750695
PMS2
0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 6
rs11651755
HNF1B
0.763 0.160 17 37739849 intron variant T/C snv 0.52 5
rs587781803
BRCA2
0.851 0.200 13 32341169 frameshift variant AAGAG/- delins 5
rs80357438
NBR2 ; BRCA1
0.851 0.200 17 43124032 stop gained A/G;T snv 5
rs80357669
BRCA1
0.851 0.200 17 43093074 frameshift variant G/- delins 5
rs80359477
BRCA2
0.851 0.200 13 32339386 frameshift variant AA/-;A delins 5
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs185229225
BOD1L1
0.851 0.120 4 13607505 intron variant T/C snv 4
rs3814113 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 4
rs587778617
PMS2
0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 4
rs10088218
LINC00824
0.851 0.120 8 128531703 intron variant G/A snv 0.13 3
rs113954997
RRAS2
0.882 0.280 11 14294844 missense variant T/A;C snv 3
rs11782652
CHMP4C
0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 3
rs1243180
MLLT10
0.790 0.160 10 21626690 intron variant T/A snv 0.23 3
rs13281615
CASC8 ; POU5F1B ; PCAT1 ; CASC21
0.716 0.360 8 127343372 intron variant A/G snv 0.43 3
rs2072590
HAGLR ; HAGLROS
0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 3