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: 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: rs35690297
rs35690297
PMS2
5 1.000 0.120 7 6002584 start lost T/A;C snv 0.010 < 0.001 1 2009 2009
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: 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: rs917411291
rs917411291
GZMM
9 0.851 0.360 19 544072 start lost A/C;G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs917570055
rs917570055
GZMM
7 0.882 0.360 19 547342 start lost A/G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs1245554802
rs1245554802
OGG1 ; CAMK1
5 0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 2003 2005
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs876658923
rs876658923
MLH1 ; EPM2AIP1
3 1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs3798577
rs3798577
ESR1
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 1.000 2 2007 2010
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: rs2077647
rs2077647
ESR1
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.010 1.000 1 2015 2015
dbSNP: rs3856806
rs3856806
PPARG
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2010 2010
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2005 2005
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2018 2018
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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 21 2003 2019
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.740 1.000 5 1999 2005
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2010 2015