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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 0.862 29 1997 2019
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.030 1.000 3 1997 2019
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.030 1.000 3 1997 2019
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.020 1.000 2 1997 2006
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.080 0.875 8 1998 2016
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: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.100 0.895 38 2000 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.800 30 2000 2019
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.100 0.923 13 2000 2017
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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.878 49 2001 2019