Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 10
rs180177133
PALB2
0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 9
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 8
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 8
rs28904921
C11orf65 ; ATM
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 7
rs121908698
CHEK2
0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 7
rs879255309
BRCA2
0.925 0.200 13 32338238 stop gained C/T snv 4
rs118203999
PALB2
0.925 0.200 16 23623003 stop gained G/A snv 4
rs180177097
PALB2
0.882 0.080 16 23635519 stop gained G/A snv 4
rs587781837
ATM ; C11orf65
1.000 0.200 11 108343348 frameshift variant T/- delins 3
rs587781707
BARD1
1.000 0.080 2 214752472 stop gained G/A;C snv 1.2E-05 3
rs786203008
C11orf65 ; ATM
1.000 0.200 11 108317401 frameshift variant T/- delins 3
rs180177102
PALB2
1.000 0.080 16 23634954 frameshift variant AA/-;A delins 1.8E-04 1.3E-04 3
rs180177111
PALB2
0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06 3
rs587781840
PALB2
16 23623001 frameshift variant T/- delins 2
rs1555591746
BRCA1
17 43094088 frameshift variant -/A delins 1
rs1555284566
BRCA2
13 32340503 frameshift variant -/T delins 1
rs1555287661
BRCA2
13 32370534 frameshift variant TTCAAAGA/- delins 1
rs1555288169
BRCA2
13 32376747 frameshift variant -/T delins 1
rs104894136
CYP17A1-AS1 ; WBP1L ; CYP17A1
0.882 0.200 10 102834074 stop gained G/A snv 1
rs112294663
PHB
17 49404263 3 prime UTR variant G/A;C;T snv 1