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: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.700 1.000 19 1994 2016
dbSNP: rs55863639
rs55863639
TP53
2 1.000 0.120 17 7675994 splice region variant C/A;G;T snv 0.700 1.000 18 1989 2015
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: rs367543046
rs367543046
FH
2 1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03 0.700 1.000 16 1997 2015
dbSNP: rs730881674
rs730881674
CDKN2A
2 1.000 0.120 9 21971116 frameshift variant GTGAGAGTGGCGGGGTCGG/- delins 0.700 1.000 15 1995 2015
dbSNP: rs768966657
rs768966657
CDKN2A
2 1.000 0.120 9 21971021 inframe insertion -/ACG delins 1.3E-05 0.700 1.000 14 1996 2016
dbSNP: rs80357258
rs80357258
BRCA1
2 1.000 0.200 17 43045712 missense variant T/C snv 0.700 1.000 14 2003 2016
dbSNP: rs5030802
rs5030802
VHL
2 1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 0.700 1.000 12 1995 2016
dbSNP: rs587780784
rs587780784
CDH1
4 1.000 0.080 16 68811854 stop gained C/G;T snv 1.6E-05; 8.0E-06 0.700 1.000 12 2002 2015
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: rs113993962
rs113993962
BLM
2 1.000 0.120 15 90766923 frameshift variant ATCTGA/TAGATTC delins 2.0E-04 0.700 1.000 11 1995 2013
dbSNP: rs63751642
rs63751642
MLH1
3 1.000 0.160 3 37000956 inframe deletion AGA/- delins 0.700 1.000 11 2002 2014
dbSNP: rs869025618
rs869025618
VHL
2 1.000 0.120 3 10142061 missense variant T/C snv 0.700 1.000 11 2002 2015
dbSNP: rs267607803
rs267607803
MLH1
2 1.000 0.080 3 37017602 splice region variant A/G snv 0.700 1.000 10 2001 2016
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
2 1.000 0.080 13 48379594 stop gained C/T snv 4.0E-06 0.700 1.000 10 1989 2017
dbSNP: rs587776551
rs587776551
ATM
4 1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05 0.700 1.000 10 1998 2016
dbSNP: rs587778842
rs587778842
RB1
2 1.000 0.080 13 48362859 stop gained C/T snv 0.700 1.000 10 1994 2015
dbSNP: rs587779815
rs587779815
ATM
2 1.000 0.200 11 108250804 stop gained C/T snv 8.0E-06 1.4E-05 0.700 1.000 10 1996 2017
dbSNP: rs587781682
rs587781682
FH
2 1.000 0.200 1 241508644 missense variant G/A snv 7.0E-06 0.700 1.000 10 1997 2011
dbSNP: rs587783048
rs587783048
CDH1
2 1.000 0.080 16 68829753 frameshift variant C/- delins 0.700 1.000 10 2001 2016
dbSNP: rs760146707
rs760146707
RAD50
2 1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04 0.700 1.000 10 2003 2015
dbSNP: rs80359026
rs80359026
BRCA2
2 1.000 13 32362692 missense variant A/G snv 0.700 1.000 10 2005 2017
dbSNP: rs121913301
rs121913301
RB1 ; LOC112268118
2 1.000 0.080 13 48368549 stop gained C/T snv 0.700 1.000 9 1995 2015
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: rs267607898
rs267607898
MLH1
3 1.000 0.160 3 37050559 frameshift variant CACA/-;CA delins 0.700 1.000 9 1994 2017