Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 2
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 6
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 10
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs28904921
C11orf65 ; ATM
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 7
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 11
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 5
rs80359351
BRCA2
0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 6
rs80358981
BRCA2
0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 7
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 8
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 17
rs80357580
BRCA1
0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 4
rs80356962
BRCA1
0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 8
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
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 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