Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs13014235
FLACC1
0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 5
rs775248597
ATM
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06 5
rs760253622
PTCH1
0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 3
rs912880810
SMO
1.000 0.040 7 129203401 missense variant C/G;T snv 2
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 22
rs1800407
OCA2
0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 10
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 8
rs11170164
KRT5
0.827 0.120 12 52519884 missense variant C/T snv 5.7E-02 5.3E-02 6
rs1356844630
GLI1
0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 5
rs7297245
HAL
0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 4
rs57343616
NABP2 ; SLC39A5
1.000 0.040 12 56229563 3 prime UTR variant C/T snv 4.2E-02 2
rs746339472
PTCH1
1.000 0.040 9 95506413 missense variant C/T snv 8.0E-06 2.1E-05 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
rs937023804
PTCH1
1.000 0.040 9 95479023 missense variant C/T snv 2.1E-05 2
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs869025212
BAP1
0.827 0.200 3 52403428 frameshift variant G/- delins 6
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 29