Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28897756
BRCA2
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 11
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs28942088
SUFU ; ACTR1A
1.000 0.040 10 102504196 missense variant C/T snv 1
rs387906238
APC
0.925 0.120 5 112819224 frameshift variant AA/- del 1
rs397507327
BRCA2
0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 9
rs397507404
BRCA2
0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 10
rs397508045
BRCA2
0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 9
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 10
rs56126236
PTCH2
0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 2
rs587776578
SUFU
0.882 0.160 10 102599545 splice donor variant G/A;C snv 3
rs587782329
TP53
0.677 0.280 17 7674217 missense variant C/A;G;T snv 16
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 1
rs63750451
PMS2
0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 4
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 7
rs80358391
BRCA2
0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 10
rs80358427
BRCA2
0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 10
rs80358435
BRCA2
0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 11
rs80358557
BRCA2
0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 10
rs80358638
BRCA2
0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 4