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: rs200917541
rs200917541
CHEK2
5 0.851 0.200 22 28725270 stop gained G/A;T snv 0.700 0
dbSNP: rs28897756
rs28897756
BRCA2
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs28939702
rs28939702
ABCC6
13 0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 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: rs370795352
rs370795352
PTEN
13 0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs387906417
rs387906417
MXI1
1 1.000 0.080 10 110279296 splice donor variant T/C snv 0.700 0
dbSNP: rs397507327
rs397507327
BRCA2
9 0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs397507404
rs397507404
BRCA2
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs397508045
rs397508045
BRCA2
9 0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs45580035
rs45580035
BRCA2
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs540635787
rs540635787
CHEK2
4 0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs560596101
rs560596101
CHEK2
5 0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs587781705
rs587781705
CHEK2
5 0.851 0.200 22 28734506 stop gained A/C snv 0.700 0
dbSNP: rs587782401
rs587782401
CHEK2
5 0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs587782798
rs587782798
CDH1
7 0.807 0.400 16 68813322 stop gained C/T snv 0.700 0
dbSNP: rs72653744
rs72653744
ABCC6
12 0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs730881701
rs730881701
CHEK2
5 0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs749804502
rs749804502
POLK
1 1.000 0.080 5 75573790 missense variant G/A;T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs770984846
rs770984846
POLK
1 1.000 0.080 5 75590368 synonymous variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs781194178
rs781194178
POLK
1 1.000 0.080 5 75596385 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs786205688
rs786205688
POLK
1 1.000 0.080 5 75598084 3 prime UTR variant T/C snv 0.700 0