Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs965513
PTCSC2
0.742 0.200 9 97793827 intron variant A/G;T snv 15
rs10817938
PTCSC2
0.882 0.080 9 97700127 non coding transcript exon variant T/C snv 3.2E-02 5
rs768827923
PIK3CD
0.851 0.080 1 9721816 missense variant T/G snv 6
rs2660852 12 96051770 intergenic variant C/A snv 0.34 3
rs1490204625
RASA1
0.925 0.160 5 87268486 missense variant G/A snv 5
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins 8
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs730882002
TP53
0.925 0.040 17 7674956 missense variant T/C snv 6
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 44
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs1179251
IL22 ; LOC105369818
0.763 0.320 12 68251271 intron variant C/G snv 0.18 14
rs1340026226
AR
1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06 3
rs976306779
AR
0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06 8
rs746429
SIPA1
0.882 0.120 11 65649963 synonymous variant G/A snv 0.31 0.30 8
rs931127
SIPA1 ; PCNX3
0.790 0.160 11 65637829 upstream gene variant G/A snv 0.49 12
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs2064863
AURKA
0.925 0.120 20 56387716 intron variant T/A;C;G snv 4
rs6024836
FAM210B ; AURKA
0.851 0.160 20 56369012 downstream gene variant G/A snv 0.42 7
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70