Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs531564
LINC00599 ; MIR124-1
0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 27
rs1867277
PTCSC2 ; FOXE1
0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 10
rs2660852 12 96051770 intergenic variant C/A snv 0.34 3
rs2289030
MIR492 ; KRT19P2
0.882 0.120 12 94834510 non coding transcript exon variant G/C snv 9.7E-02 6.3E-02 6
rs1329032366
PDLIM5
0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06 5
rs1057519906
IDH2
0.882 0.120 15 90088607 missense variant T/A;C snv 8
rs868257011
PTEN
0.925 0.080 10 87961042 frameshift variant TACTT/- del 4
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 5
rs121909218
PTEN
0.672 0.360 10 87933145 missense variant G/A snv 25
rs1172398253
CCN1
0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 4
rs4328905
HPSE
4 83322396 intron variant A/G snv 0.18 0.18 1
rs11099592
HPSE
0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 5
rs1453208391
HGF
7 81707297 missense variant G/A snv 4.0E-06 1
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 12
rs12918952
WWOX
0.851 0.120 16 78386878 missense variant G/A;C;T snv 7
rs1064793929
TP53
0.882 0.280 17 7675167 frameshift variant A/-;AA delins 5
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 31
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs774390402
BCAR1
16 75235116 missense variant A/C snv 1.2E-05 1
rs141613848
SLC9A3R1
0.925 0.080 17 74768481 missense variant A/T snv 1.0E-03 1.2E-03 4
rs737241
AFP
0.827 0.120 4 73451012 intron variant G/A;C snv 7
rs4024
AFP
0.827 0.120 4 73435667 intron variant G/A snv 0.52 7