Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 29
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 16
rs4246215
FADS2 ; FEN1
0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 14
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 11
rs7758229
SLC22A3
0.732 0.120 6 160419220 intron variant G/A;T snv 8
rs2070699
EDN1
0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 5
rs137853007
CHEK2
0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 2
rs63751127
MSH6 ; FBXO11
0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 2
rs1254244346
ABCA1
1.000 0.080 9 104822502 missense variant G/A snv 4.0E-06 1
rs137853200
EPHA2
0.925 0.120 1 16129440 missense variant G/A snv 1
rs1424847607
EPHA2
1.000 0.080 1 16133591 missense variant A/G snv 4.0E-06 1
rs1537372
CDKN2B-AS1
0.752 0.120 9 22103184 intron variant G/A;T snv 1
rs4711689
TFEB
0.790 0.080 6 41725074 intron variant G/A;C snv 1
rs6469656 0.790 0.080 8 116635549 regulatory region variant G/A;C snv 1
rs7226855
SMAD7
0.790 0.080 18 48927678 intron variant A/G;T snv 1
rs7528276
MACF1
0.790 0.080 1 39344315 intron variant T/A;C snv 1
rs772862415
CD44
1.000 0.080 11 35211278 missense variant C/T snv 1
rs773393960
PMS2
1.000 0.080 7 5977653 missense variant G/A;C snv 8.1E-06; 1.2E-05 1
rs964293 0.790 0.080 20 54200178 TF binding site variant C/A;T snv 1
rs11571658
BRCA2
0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 1
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 1