Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 1
rs1057519830
EGFR
1.000 0.040 7 55163737 missense variant C/T snv 1
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 1
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1
rs121913433
EGFR
1.000 0.040 7 55174771 missense variant A/G snv 1
rs121909250
ING1
1.000 0.040 13 110719736 missense variant G/C snv 1
rs121909251
ING1
1.000 0.040 13 110719739 missense variant A/G snv 1
rs121909252
ING1
1.000 0.040 13 110719667 missense variant C/A snv 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs121909237
PTEN
1.000 0.040 10 87933121 missense variant C/G snv 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins 1
rs1057519904
H3C11
0.742 0.080 6 27872233 missense variant T/A snv 2
rs1057519905
H3C11
0.925 0.080 6 27872234 missense variant T/C snv 2
rs1057519824
MET
0.807 0.120 7 116783374 missense variant T/G snv 2
rs1567549584
TP53
0.925 0.120 17 7674245 missense variant T/C snv 2
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 3
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs1057519887
EGFR
0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 3
rs149840192
EGFR
0.807 0.080 7 55154129 missense variant C/A;T snv 3
rs769696078
EGFR
0.925 0.040 7 55154128 missense variant G/A snv 3
rs1057519911
MAPK1
0.776 0.160 22 21772875 missense variant C/T snv 3