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: rs63749831
rs63749831
MSH2
4 0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 0.700 1.000 12 1994 2018
dbSNP: rs786202732
rs786202732
SDHB
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 1.000 12 1995 2018
dbSNP: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 12 1997 2018
dbSNP: rs80359075
rs80359075
BRCA2
2 1.000 13 32370420 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 12 2002 2018
dbSNP: rs80359198
rs80359198
BRCA2
4 0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05 0.700 1.000 12 2007 2018
dbSNP: rs28934874
rs28934874
TP53
21 0.695 0.480 17 7675161 missense variant G/A;C;T snv 0.700 1.000 11 1991 2018
dbSNP: rs786203457
rs786203457
SDHC
1 1 161356815 missense variant A/G snv 7.0E-06 0.700 1.000 11 2009 2018
dbSNP: rs80359316
rs80359316
BRCA2
3 0.925 0.200 13 32336284 frameshift variant G/- del 0.700 1.000 11 1997 2018
dbSNP: rs80359391
rs80359391
BRCA2
3 0.925 0.200 13 32337953 frameshift variant GT/- delins 0.700 1.000 11 2002 2018
dbSNP: rs80359605
rs80359605
BRCA2
3 0.925 0.200 13 32340946 frameshift variant TG/- del 4.1E-06 0.700 1.000 11 1996 2018
dbSNP: rs81002858
rs81002858
BRCA2
3 0.925 0.200 13 32326497 splice acceptor variant A/C;G snv 0.700 1.000 11 2003 2018
dbSNP: rs587779338
rs587779338
PMS2
7 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.700 1.000 10 2010 2018
dbSNP: rs80356936
rs80356936
BRCA1
5 0.851 0.200 17 43104260 stop gained A/C;G;T snv 4.0E-06 0.700 1.000 10 2007 2018
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
2 1.000 0.080 13 48379624 stop gained C/T snv 7.0E-06 0.700 1.000 9 1996 2018
dbSNP: rs587781558
rs587781558
ATM
3 0.925 0.280 11 108271147 splice donor variant G/A;C;T snv 2.4E-05; 4.0E-06 0.700 1.000 9 1996 2018
dbSNP: rs80357472
rs80357472
BRCA1
3 0.925 0.200 17 43094477 stop gained C/A;T snv 8.0E-06 0.700 1.000 9 2001 2018
dbSNP: rs80357877
rs80357877
BRCA1
4 0.882 0.200 17 43092040 frameshift variant AGTATCTTCCT/- delins 0.700 1.000 9 1995 2018
dbSNP: rs80358099
rs80358099
BRCA1
3 0.925 0.200 17 43051118 splice acceptor variant C/A;G;T snv 4.0E-06 0.700 1.000 9 1997 2018
dbSNP: rs80358145
rs80358145
BRCA1
3 0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06 0.700 1.000 9 2001 2018
dbSNP: rs80359083
rs80359083
BRCA2
1 13 32370448 missense variant G/A;T snv 0.700 1.000 9 2008 2018
dbSNP: rs80359187
rs80359187
BRCA2
2 1.000 0.080 13 32380116 missense variant G/A;T snv 4.0E-06 0.700 1.000 9 2001 2018
dbSNP: rs28897746
rs28897746
BRCA2
2 1.000 0.120 13 32363259 missense variant T/C snv 0.700 1.000 8 2002 2018
dbSNP: rs387906843
rs387906843
RAD51D ; RAD51L3-RFFL
3 0.925 0.200 17 35106406 stop gained G/A snv 4.0E-05 2.8E-05 0.700 1.000 8 2011 2018
dbSNP: rs398122805
rs398122805
SDHB
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 1.000 8 2006 2018
dbSNP: rs200397144
rs200397144
SDHA
3 1.000 5 251427 missense variant C/G;T snv 2.4E-05; 4.0E-06 0.700 1.000 7 2011 2018