Source: ALL
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: rs80357678
rs80357678
BRCA1
5 0.851 0.200 17 43091614 frameshift variant AA/- del 0.700 0
dbSNP: rs80359011
rs80359011
BRCA2
4 0.882 0.200 13 32362574 stop gained G/A;C snv 0.700 0
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs80359598
rs80359598
BRCA2
4 0.882 0.200 13 32340837 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs80359770
rs80359770
BRCA2
5 0.851 0.200 13 32332429 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs864622149
rs864622149
CHEK2
5 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1236971182
rs1236971182
CDKN1A
1 1.000 0.080 6 36684381 missense variant C/T snv 8.1E-06 0.010 1.000 1 1996 1996
dbSNP: rs1800709
rs1800709
BRCA1
6 0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03 0.010 1.000 1 1996 1996
dbSNP: rs747097215
rs747097215
SLC12A9
1 1.000 0.080 7 100856990 missense variant C/T snv 2.0E-05 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 0.500 2 1998 1999
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 0.500 2 1998 1999
dbSNP: rs4987208
rs4987208
RAD52
4 0.851 0.160 12 913403 stop gained A/C snv 3.5E-02 2.1E-02 0.010 1.000 1 1999 1999
dbSNP: rs80356881
rs80356881
BRCA1
3 0.882 0.080 17 43074454 stop gained G/A;C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs191257018
rs191257018
MLH1
2 0.925 0.080 3 37020444 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs61753793
rs61753793
MSH6 ; FBXO11
4 0.851 0.120 2 47799002 missense variant T/C snv 3.6E-05 5.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs80358547
rs80358547
BRCA2
5 0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1800744
rs1800744
BRCA1
2 0.925 0.080 17 43074471 missense variant C/A snv 2.4E-03 2.4E-03 0.010 1.000 1 2002 2002
dbSNP: rs747091571
rs747091571
OGG1 ; CAMK1
4 0.925 0.080 3 9765977 missense variant C/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1036980234
rs1036980234
PTCH1
6 0.827 0.160 9 95447156 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1048249612
rs1048249612
CHEK1
2 0.925 0.080 11 125629291 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1057519981
rs1057519981
TP53
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs1394960893
rs1394960893
GSTP1
6 0.807 0.240 11 67586553 synonymous variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs2227924
rs2227924
ATM
3 0.882 0.080 11 108251865 missense variant C/G snv 3.9E-03 1.5E-02 0.010 1.000 1 2003 2003
dbSNP: rs28909982
rs28909982
CHEK2
4 0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05 0.010 1.000 1 2003 2003