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: rs63750586
rs63750586
MSH2
3 0.925 0.160 2 47429867 frameshift variant -/A delins 0.700 1.000 3 2007 2015
dbSNP: rs1562677687
rs1562677687
PMS2
1 1.000 0.160 7 5999131 frameshift variant -/GATA delins 0.700 0
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: rs267607738
rs267607738
MLH1
1 1.000 0.160 3 37001054 splice donor variant -/T delins 0.700 0
dbSNP: rs1558459885
rs1558459885
MSH2
2 0.925 0.160 2 47410371 frameshift variant A/- del 0.700 0
dbSNP: rs63750084
rs63750084
MSH2
3 1.000 0.160 2 47482786 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs267608023
rs267608023
MSH2
1 1.000 0.160 2 47482936 missense variant A/C snv 0.700 1.000 20 1994 2012
dbSNP: rs1559543768
rs1559543768
MLH1
1 1.000 0.160 3 37020348 missense variant A/C snv 0.700 0
dbSNP: rs63750571
rs63750571
MSH2
1 1.000 0.160 2 47480770 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 37 1994 2017
dbSNP: rs63751107
rs63751107
MSH2
1 1.000 0.160 2 47403288 missense variant A/C;G snv 6.7E-05; 1.3E-05 0.700 1.000 17 2001 2017
dbSNP: rs63750797
rs63750797
MSH2
1 1.000 0.160 2 47480795 missense variant A/C;G snv 1.2E-05; 4.0E-06 0.700 1.000 16 2001 2017
dbSNP: rs63750838
rs63750838
MSH2
1 1.000 0.160 2 47466801 missense variant A/C;G snv 0.700 1.000 14 2001 2017
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
8 0.925 0.200 3 36993548 start lost A/C;G snv 0.700 0
dbSNP: rs63751656
rs63751656
MSH2
2 0.925 0.160 2 47466807 stop gained A/C;G;T snv 0.700 1.000 34 1994 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: rs201118107
rs201118107
MSH2
1 1.000 0.160 2 47471051 missense variant A/C;G;T snv 8.0E-06; 1.0E-04; 1.2E-05 0.700 1.000 16 2001 2017
dbSNP: rs63750881
rs63750881
MSH2
2 0.925 0.160 2 47412504 stop gained A/C;G;T snv 0.700 1.000 14 2001 2017
dbSNP: rs1114167818
rs1114167818
MSH2
2 1.000 0.160 2 47482777 splice acceptor variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs267607943
rs267607943
MSH2
4 0.925 0.160 2 47429740 splice acceptor variant A/C;G;T snv 0.700 0
dbSNP: rs63749919
rs63749919
MSH6 ; FBXO11
3 1.000 0.160 2 47800889 missense variant A/C;G;T snv 1.2E-05; 8.2E-06 0.700 0
dbSNP: rs63749936
rs63749936
MSH2
1 1.000 0.160 2 47412414 missense variant A/C;G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs55778204
rs55778204
MSH2
2 0.925 0.160 2 47470993 missense variant A/G snv 2.3E-04 7.7E-05 0.700 1.000 36 1994 2017
dbSNP: rs61756468
rs61756468
MSH2
1 1.000 0.160 2 47475151 missense variant A/G snv 1.2E-03 4.1E-04 0.700 1.000 36 1994 2017
dbSNP: rs63750327
rs63750327
MSH2
1 1.000 0.160 2 47410320 missense variant A/G snv 0.700 1.000 34 1994 2017
dbSNP: rs1553350676
rs1553350676
MSH2
1 1.000 0.160 2 47410143 missense variant A/G snv 0.700 1.000 20 1994 2012