Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 25
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 13
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 13
rs2228479
MC1R
0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 11
rs2293152
STAT3
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 10
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv 6
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 6
rs1356844630
GLI1
0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 5
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 4
rs104894049
SHH
0.925 0.120 7 155806527 missense variant T/A snv 3
rs758656848
PTCH1
0.925 0.040 9 95485797 missense variant T/C snv 3
rs760253622
PTCH1
0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 3
rs41303402
SMO
1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06 2
rs768043782
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22005994 missense variant C/T snv 8.6E-06 2
rs774885952
GLI1
1.000 0.040 12 57464828 missense variant C/T snv 4.0E-06 2
rs912880810
SMO
1.000 0.040 7 129203401 missense variant C/G;T snv 2