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: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs63750875
rs63750875
MSH2
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.800 1.000 20 2001 2017
dbSNP: rs17217772
rs17217772
MSH2
10 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 0.700 1.000 16 2001 2017
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 1.000 4 2005 2014
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 1.000 4 2004 2010
dbSNP: rs587779157
rs587779157
MSH2
6 0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 0.700 1.000 2 2000 2014
dbSNP: rs63751108
rs63751108
MSH2
7 0.827 0.240 2 47429881 stop gained C/T snv 0.700 1.000 2 2005 2013
dbSNP: rs1114167806
rs1114167806
MSH2
7 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
dbSNP: rs63751207
rs63751207
MSH2
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.800 1.000 14 2001 2017
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 0.700 1.000 3 2008 2013
dbSNP: rs63749849
rs63749849
MSH2
6 0.851 0.240 2 47429812 stop gained C/T snv 0.700 1.000 3 1995 2010
dbSNP: rs267607940
rs267607940
MSH2
6 0.851 0.240 2 47416430 splice donor variant G/A;T snv 0.700 0
dbSNP: rs587779190
rs587779190
MSH2
5 0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs63750193
rs63750193
MLH1
6 0.851 0.160 3 37040276 missense variant T/C snv 0.700 0
dbSNP: rs63750508
rs63750508
MSH2
6 0.851 0.240 2 47475126 stop gained C/G;T snv 0.700 0
dbSNP: rs63750610
rs63750610
MLH1
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.700 0
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 0
dbSNP: rs63750636
rs63750636
MSH2
6 0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs63750781
rs63750781
MLH1
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs63751202
rs63751202
MLH1
5 0.851 0.160 3 37048578 missense variant T/C;G snv 0.700 0
dbSNP: rs587779067
rs587779067
MSH2
5 0.882 0.200 2 47416399 missense variant C/G;T snv 0.800 1.000 42 1994 2017
dbSNP: rs63750070
rs63750070
MSH2
3 0.882 0.160 2 47410245 missense variant T/C;G snv 0.800 1.000 37 1994 2017
dbSNP: rs587779163
rs587779163
MSH2
4 0.882 0.160 2 47410220 missense variant T/G snv 0.700 1.000 34 1994 2017
dbSNP: rs146421227
rs146421227
MSH2
3 0.882 0.160 2 47482912 missense variant T/A snv 7.0E-06 0.700 1.000 20 1994 2012
dbSNP: rs63749873
rs63749873
MSH6 ; FBXO11
5 0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 0.700 1.000 4 1992 2014