Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs55770810
rs55770810
BRCA1
7 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.800 0
dbSNP: rs1801155
rs1801155
APC
10 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.720 1.000 0 1997 1998
dbSNP: rs17879961
rs17879961
CHEK2
12 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 0 2006 2006
dbSNP: rs1064795649
rs1064795649
BRIP1
2 1.000 0.120 17 61799205 frameshift variant CT/- delins 0.700 0
dbSNP: rs118203998
rs118203998
PALB2
8 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
9 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
dbSNP: rs138213197
rs138213197
HOXB13
6 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.700 0
dbSNP: rs34612342
rs34612342
MUTYH
11 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs587781803
rs587781803
BRCA2
5 0.851 0.200 13 32341169 frameshift variant AAGAG/- delins 0.700 0
dbSNP: rs63750695
rs63750695
PMS2
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 0
dbSNP: rs80356898
rs80356898
BRCA1
9 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs80357233
rs80357233
BRCA1
4 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
4 0.851 0.200 17 43124032 stop gained A/G;T snv 0.700 0
dbSNP: rs80357669
rs80357669
BRCA1
5 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 0
dbSNP: rs80357828
rs80357828
BRCA1
3 0.882 0.200 17 43092155 frameshift variant GA/- delins 0.700 0
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs80359477
rs80359477
BRCA2
5 0.851 0.200 13 32339386 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs869312756
rs869312756
ATM
3 0.925 0.320 11 108307985 splice donor variant G/A;T snv 0.700 0
dbSNP: rs869312774
rs869312774
PALB2
3 0.925 0.160 16 23614019 frameshift variant T/- delins 0.700 0