Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv 24
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs17849781
TP53
0.701 0.480 17 7673788 missense variant G/A;C;T snv 14
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv 14
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv 13
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv 12
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv 12
rs587777790
PIK3CA
0.732 0.280 3 179199690 missense variant G/A snv 12
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
rs375874539
TP53
0.732 0.320 17 7674237 missense variant G/A;C snv 11
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 11
rs397507404
BRCA2
0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 10
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 10
rs80358893
BRCA2
0.763 0.320 13 32341011 stop gained C/G snv 10
rs80359014
BRCA2
0.763 0.320 13 32362596 missense variant A/G;T snv 10