Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs969139366
PDGFRA
4 54277974 missense variant T/C snv 3.5E-05 3
rs961150162
EGFR
7 55198779 missense variant G/A;C snv 3
rs9282861
SULT1A1
0.658 0.440 16 28606193 missense variant C/T snv 31
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv 16
rs773862672
MTOR
0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 6
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs767808984
NKX2-1-AS1 ; SFTA3 ; NKX2-1
0.851 0.160 14 36520098 missense variant C/G;T snv 1.3E-05 9
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs762807774
SDF4
1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 2
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs720012
DGCR8
22 20111059 3 prime UTR variant G/A snv 0.12 1
rs7121
GNAS
0.882 0.160 20 58903752 missense variant C/G;T snv 0.54 6
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv 8
rs587782148
TP53
17 7676113 missense variant C/T snv 2
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs55958994
KRT8
0.925 0.080 12 52907235 intron variant C/T snv 0.12 3
rs557263543
FGFR1
8 38412508 3 prime UTR variant C/T snv 3
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 23
rs438034
CENPF
0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 4