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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
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: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.710 1.000 3 1999 2001
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: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 23 2003 2019
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: 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: 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: rs587779383
rs587779383
FGFR3
5 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.700 1.000 1 1998 1998
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913246
rs121913246
MET
7 0.827 0.200 7 116783360 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2001 2001
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs768824654
rs768824654
MSH2
6 1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 0.010 < 0.001 1 2009 2009
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: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.010 < 0.001 1 2005 2005
dbSNP: rs917570055
rs917570055
GZMM
7 0.882 0.360 19 547342 start lost A/G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2011 2018
dbSNP: rs1057520030
rs1057520030
MET
1 7 116777427 missense variant A/G;T snv 0.700 1.000 1 2002 2002
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs6842
rs6842
AGR2
1 7 16794973 missense variant A/G;T snv 0.43 0.38 0.010 1.000 1 2009 2009