Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs1041981
LOC100287329 ; LTA
0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 1
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 7
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs1057517539
PALB2
1.000 0.080 16 23629214 stop gained G/T snv 2
rs1057517563
PALB2
1.000 0.080 16 23603595 frameshift variant A/- delins 1
rs1057517585
DCTN5 ; PALB2
1.000 0.080 16 23641155 start lost C/T snv 2
rs1057517589
BARD1
1.000 0.080 2 214797099 frameshift variant TC/- delins 7.0E-06 2
rs1057517596
CHEK2
1.000 0.080 22 28699937 splice acceptor variant C/- delins 1
rs1057517600
PALB2
1.000 0.080 16 23607958 frameshift variant G/- del 2
rs1057517602
PALB2
1.000 0.080 16 23630316 frameshift variant T/- del 1
rs1057517643
BRIP1
0.882 0.280 17 61744578 stop gained A/T snv 3
rs1057517648
BRIP1
0.882 0.280 17 61859795 splice donor variant C/- delins 4
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins 5
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv 20
rs1057520006
TP53
0.752 0.240 17 7673799 missense variant A/C;G;T snv 12
rs1057520036
FGFR4
0.925 0.080 5 177093180 missense variant A/G snv 1
rs1060499814
PALB2
1.000 0.080 16 23638069 splice donor variant C/T snv 7.0E-06 2
rs1060499819
PALB2
1.000 0.080 16 23630062 frameshift variant G/- delins 7.0E-06 2
rs1060499827
PALB2
1.000 0.080 16 23608014 splice acceptor variant T/G snv 2
rs1060499830
PALB2
1.000 0.080 16 23635787 frameshift variant T/- del 2
rs1060501287
BARD1
1.000 0.080 2 214769302 frameshift variant G/- delins 1