Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 73
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 48
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
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 35
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 34
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 30
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 29
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 27
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 25
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 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
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 24
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 24
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv 23