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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
dbSNP: rs28897689
rs28897689
BRCA1
2 1.000 0.200 17 43091492 stop gained T/A;C snv 3.8E-03 4.1E-03 0.700 0
dbSNP: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 1.000 13 2009 2015
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 1.000 21 1999 2017
dbSNP: rs116373169
rs116373169
PMS2
1 7 6002607 stop gained G/A;T snv 5.1E-04 1.7E-03 0.700 0
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 1.000 8 2006 2017
dbSNP: rs138213197
rs138213197
HOXB13
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.700 1.000 26 1996 2017
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 22 1987 2016
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
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 0.700 1.000 15 1997 2017
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: 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: rs77542170
rs77542170
MUTYH
2 1.000 0.120 1 45332088 splice acceptor variant T/C snv 1.1E-03 3.6E-04 0.700 0
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: rs148690585
rs148690585
RAD51D ; RAD51L3-RFFL
2 1.000 17 35118548 stop gained G/A;T snv 1.1E-04 2.7E-04 0.700 0
dbSNP: rs587780078
rs587780078
MUTYH
4 0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04 0.700 1.000 10 2004 2017
dbSNP: rs137853011
rs137853011
CHEK2
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 6 2005 2017
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 13 2011 2017
dbSNP: rs104886456
rs104886456
FANCC
3 0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04 0.700 1.000 10 1993 2016
dbSNP: rs587781722
rs587781722
ATM ; C11orf65
3 0.925 0.280 11 108310305 stop gained C/T snv 3.2E-05 2.0E-04 0.700 1.000 4 1998 2015
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 1.000 15 2000 2017
dbSNP: rs147187700
rs147187700
ATM ; C11orf65
3 0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04 0.700 0
dbSNP: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 10 2009 2016
dbSNP: rs200389141
rs200389141
BLM
11 0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 0.700 1.000 12 2007 2016
dbSNP: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 10 2005 2015