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: rs999444545
rs999444545
BARD1
1 2 214781241 frameshift variant -/A delins 0.700 0
dbSNP: rs995629797
rs995629797
PALB2
2 1.000 0.080 16 23626254 stop gained A/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs995265408
rs995265408
RAD50 ; TH2LCRR
1 5 132638215 splice donor variant ACAAAAGGCAGG/- delins 0.700 1.000 2 2006 2009
dbSNP: rs988423880
rs988423880
PMS2
3 1.000 0.160 7 5999276 splice acceptor variant C/G snv 7.0E-06 0.700 0
dbSNP: rs985033810
rs985033810
TP53
16 0.724 0.280 17 7674232 missense variant C/A;G;T snv 0.700 1.000 7 1994 2015
dbSNP: rs984874083
rs984874083
MRE11
1 11 94470473 stop gained T/A snv 4.0E-06 4.2E-05 0.700 0
dbSNP: rs981049067
rs981049067
SDHC
1 1 161356822 stop gained G/A;C snv 0.700 0
dbSNP: rs980964237
rs980964237
RAD50
1 5 132591964 stop gained C/T snv 0.700 0
dbSNP: rs9809219
rs9809219
SDHA
3 0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 0.700 1.000 10 1995 2017
dbSNP: rs979212552
rs979212552
MSH2
2 2 47416395 stop gained C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs972341316
rs972341316
SMARCA4
2 1.000 0.040 19 10989339 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs951805101
rs951805101
MRE11
1 11 94486068 stop gained A/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs947142407
rs947142407
RAD50
1 5 132588741 stop gained C/G;T snv 0.700 0
dbSNP: rs932830392
rs932830392
MUTYH
1 1 45330533 stop gained G/A snv 0.700 0
dbSNP: rs932256543
rs932256543
FLCN
1 17 17219162 stop gained C/A;T snv 0.700 0
dbSNP: rs9282859
rs9282859
STK11
1 19 1221294 stop gained C/G;T snv 5.8E-03 0.700 1.000 2 2003 2006
dbSNP: rs916516745
rs916516745
SDHB
1 1 17022719 stop gained C/T snv 0.700 0
dbSNP: rs905674348
rs905674348
CHEK2
2 1.000 0.080 22 28725348 stop gained G/A;C snv 7.0E-06 0.700 0
dbSNP: rs898854295
rs898854295
SDHC
2 1.000 0.080 1 161356812 missense variant A/G snv 2.8E-05 0.700 1.000 1 2005 2005
dbSNP: rs894292181
rs894292181
NF1
2 1.000 0.120 17 31219104 stop gained C/T snv 7.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs888691362
rs888691362
MUTYH
3 0.925 0.160 1 45333423 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs886058705
rs886058705
BAP1
2 1.000 3 52404500 frameshift variant TA/- delins 0.700 0
dbSNP: rs886042600
rs886042600
APC
2 1.000 0.120 5 112838077 frameshift variant C/- del 0.700 1.000 1 2001 2001
dbSNP: rs886042249
rs886042249
RB1
1 13 48465116 splice region variant G/A snv 0.700 1.000 3 2005 2014
dbSNP: rs886042035
rs886042035
MEN1
2 1.000 0.120 11 64808101 splice acceptor variant T/C;G snv 0.700 0