Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519877
B2M ; PATL2
0.763 0.280 15 44711549 start lost G/A snv 10
rs1057519879
PATL2 ; B2M
0.763 0.280 15 44711548 start lost T/C;G snv 10
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 17
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 16
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
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 27
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25
rs138729528
TP53
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 25
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25