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: rs80338682
rs80338682
MPRIP ; FLCN
3 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 20 2002 2019
dbSNP: rs80359066
rs80359066
BRCA2
1 13 32363390 missense variant G/C;T snv 2.8E-05 0.700 1.000 6 2002 2019
dbSNP: rs80359527
rs80359527
BRCA2
3 0.925 0.200 13 32340035 stop gained -/A delins 0.700 1.000 4 2006 2019
dbSNP: rs730881687
rs730881687
CHEK2
4 1.000 0.080 22 28710060 splice acceptor variant C/A;T snv 1.2E-05; 1.6E-05 0.700 1.000 2 2016 2019
dbSNP: rs80359013
rs80359013
BRCA2
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 31 2002 2018
dbSNP: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 26 2004 2018
dbSNP: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 26 1997 2018
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 1.000 22 2001 2018
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.700 1.000 19 1998 2018
dbSNP: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 19 2003 2018
dbSNP: rs80356898
rs80356898
BRCA1
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 1.000 18 1995 2018
dbSNP: rs142763740
rs142763740
CHEK2
2 1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04 0.700 1.000 17 1999 2018
dbSNP: rs41293513
rs41293513
BRCA2
4 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 17 2004 2018
dbSNP: rs80358721
rs80358721
BRCA2
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 1.000 17 2007 2018
dbSNP: rs75030001
rs75030001
RET
7 0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05 0.700 1.000 16 1998 2018
dbSNP: rs80359152
rs80359152
BRCA2
5 0.851 0.200 13 32379800 missense variant G/A snv 0.700 1.000 16 2006 2018
dbSNP: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 15 1999 2018
dbSNP: rs80359035
rs80359035
BRCA2
4 0.882 0.200 13 32363211 stop gained C/A;G;T snv 0.700 1.000 15 2004 2018
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 14 2000 2018
dbSNP: rs772551056
rs772551056
SDHB
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 1.000 14 2002 2018
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.700 1.000 14 2000 2018
dbSNP: rs1800751
rs1800751
BRCA1
5 0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 0.700 1.000 13 2003 2018
dbSNP: rs397516836
rs397516836
SDHB
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 13 2006 2018
dbSNP: rs267607032
rs267607032
SDHB
5 0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 0.700 1.000 12 2008 2018
dbSNP: rs371524413
rs371524413
TP53
3 0.925 0.200 17 7675145 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 1.000 12 1998 2018