Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1443465532
VEGFA
0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 6
rs200863613
CDKN2A
0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04 6
rs7121
GNAS
0.882 0.160 20 58903752 missense variant C/G;T snv 0.54 6
rs773862672
MTOR
0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 6
rs201216664
NME1-NME2 ; NME2
0.851 0.080 17 51171503 missense variant A/G snv 5
rs961150162
EGFR
7 55198779 missense variant G/A;C snv 3
rs969139366
PDGFRA
4 54277974 missense variant T/C snv 3.5E-05 3
rs1057519771
ABL1
1.000 0.080 9 130872201 missense variant G/C snv 2
rs587782148
TP53
17 7676113 missense variant C/T snv 2
rs10009228
CHRNA9
4 40354405 missense variant A/G snv 0.78 0.76 1
rs11672691
PCAT19
0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 3
rs2073778
DGCR8
22 20087052 non coding transcript exon variant C/T snv 0.12 1
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs1288373809
TP53
0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06 5
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs2057482
HIF1A-AS2 ; HIF1A-AS3 ; HIF1A
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 21
rs2016347
IGF1R
0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 9
rs557263543
FGFR1
8 38412508 3 prime UTR variant C/T snv 3
rs720012
DGCR8
22 20111059 3 prime UTR variant G/A snv 0.12 1
rs762807774
SDF4
1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 2
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv 15
rs4444235 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 23