Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7121
GNAS
0.882 0.160 20 58903752 missense variant C/G;T snv 0.54 6
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs9282861
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 31
rs1042028
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs557263543
FGFR1
8 38412508 3 prime UTR variant C/T snv 3
rs55958994
KRT8
0.925 0.080 12 52907235 intron variant C/T snv 0.12 3
rs587782148
TP53
17 7676113 missense variant C/T snv 2
rs2073778
DGCR8
22 20087052 non coding transcript exon variant C/T snv 0.12 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs762807774
SDF4
1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 2
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs1285136498
NR3C1
0.807 0.080 5 143400101 missense variant G/A snv 13
rs1288373809
TP53
0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06 5
rs11672691
PCAT19
0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 3
rs720012
DGCR8
22 20111059 3 prime UTR variant G/A snv 0.12 1
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs375874539
TP53
0.732 0.320 17 7674237 missense variant G/A;C snv 15
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv 8