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: rs771306418
rs771306418
OGG1 ; CAMK1
5 0.851 0.120 3 9765885 splice acceptor variant -/C delins 0.010 1.000 1 2005 2005
dbSNP: rs773647920
rs773647920
MLH1
5 1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs786202567
rs786202567
PMS2
5 1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs786202724
rs786202724
MET
5 0.925 0.120 7 116777403 missense variant G/A snv 7.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs876658923
rs876658923
MLH1 ; EPM2AIP1
3 1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1057519736
rs1057519736
IDH2
13 0.752 0.160 15 90088605 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121913671
rs121913671
MET
4 0.882 0.160 7 116783353 missense variant G/A;C snv 0.700 1.000 1 1998 1998
dbSNP: rs267607906
rs267607906
MLH1
4 1.000 0.160 3 37050576 stop gained A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs577715207
rs577715207
TP63
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs6886
rs6886
CAPG
4 0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs1057520039
rs1057520039
STK11
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913246
rs121913246
MET
7 0.827 0.200 7 116783360 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2005 2005
dbSNP: rs267607911
rs267607911
MSH2
8 0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs56391007
rs56391007
MET
16 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.700 1.000 1 1975 1975
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
8 0.925 0.200 3 36993548 start lost A/C;G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
10 0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs121913484
rs121913484
FGFR3
5 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2002 2002
dbSNP: rs1400966919
rs1400966919
FGFR4
3 0.925 0.240 5 177096737 missense variant G/A snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs28931615
rs28931615
FGFR3
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs372043866
rs372043866
ERBB2
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs1057519883
rs1057519883
CDKN2A
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2013 2013