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: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.030 1.000 3 2011 2013
dbSNP: rs12947788
rs12947788
TP53
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs2075786
rs2075786
TERT
8 0.790 0.360 5 1266195 intron variant A/G snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs1554308880
rs1554308880
PMS2 ; AIMP2
1 1.000 0.160 7 6008969 intron variant CACCGGAA/- delins 0.700 0
dbSNP: rs267607749
rs267607749
MLH1
3 1.000 0.160 3 37008801 intron variant A/G snv 0.700 0
dbSNP: rs267608012
rs267608012
MSH2
1 1.000 0.160 2 47480684 intron variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs587779138
rs587779138
MSH2
1 1.000 0.160 2 47407923 intron variant T/G snv 0.700 0
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.020 1.000 2 2011 2013
dbSNP: rs961253
rs961253 		15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs63749932
rs63749932
MSH2
5 0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs587779075
rs587779075
MSH2
5 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 15 1997 2013
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 1.000 14 2006 2016
dbSNP: rs63749795
rs63749795
MLH1
8 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 14 1992 2016
dbSNP: rs63750871
rs63750871
PMS2
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 13 1995 2016
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 1.000 12 2002 2018
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 12 2003 2017
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
4 0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 0.700 1.000 11 2005 2016
dbSNP: rs63751422
rs63751422
PMS2
7 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 2005 2016
dbSNP: rs63750636
rs63750636
MSH2
6 0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 0.700 1.000 9 1998 2014
dbSNP: rs63750258
rs63750258
MSH6 ; FBXO11
5 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.700 1.000 8 2001 2015
dbSNP: rs63750521
rs63750521
MSH2
1 1.000 0.160 2 47445644 stop gained T/C;G snv 0.700 1.000 8 1994 2005
dbSNP: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 8 2000 2009
dbSNP: rs63750767
rs63750767
MSH6 ; FBXO11
4 0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 0.700 1.000 7 2003 2016
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 7 2004 2017
dbSNP: rs63751428
rs63751428
MLH1
5 0.882 0.160 3 36996686 stop gained C/A;T snv 0.700 1.000 7 1995 2010