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: 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: rs63750398
rs63750398
MSH2
5 0.925 0.160 2 47476451 missense variant G/A;T snv 0.800 1.000 37 1994 2017
dbSNP: rs63750126
rs63750126
MSH2
1 1.000 0.160 2 47410209 missense variant T/A;C snv 0.800 1.000 36 1994 2017
dbSNP: rs63750214
rs63750214
MSH2
3 0.925 0.160 2 47410215 missense variant T/A;C;G snv 4.0E-06 0.800 1.000 36 1994 2017
dbSNP: rs63750624
rs63750624
MSH2
6 0.925 0.160 2 47410211 missense variant G/A snv 0.800 1.000 29 1994 2016
dbSNP: rs63750849
rs63750849
MSH2
4 0.925 0.160 2 47480816 stop gained C/A;T snv 8.0E-06 0.800 1.000 21 2001 2017
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: rs28929483
rs28929483
MSH2
4 0.925 0.160 2 47475130 missense variant C/A;G;T snv 0.800 1.000 17 2001 2017
dbSNP: rs28929484
rs28929484
MSH2
3 0.925 0.160 2 47475180 missense variant C/T snv 0.800 1.000 17 2001 2017
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: rs63750828
rs63750828
MSH2
4 0.925 0.160 2 47416351 missense variant G/A snv 0.800 1.000 10 2003 2017
dbSNP: rs63750232
rs63750232
MSH2
4 0.925 0.160 2 47476435 missense variant G/A;C;T snv 0.700 1.000 37 1994 2017
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: rs267607980
rs267607980
MSH2
1 1.000 0.160 2 47475093 missense variant C/A;T snv 0.700 1.000 36 1994 2017
dbSNP: rs267607982
rs267607982
MSH2
2 1.000 0.160 2 47475198 stop gained C/G;T snv 1.2E-05 0.700 1.000 36 1994 2017
dbSNP: rs267608022
rs267608022
MSH2
2 0.925 0.200 2 47482858 missense variant C/G;T snv 8.0E-06; 8.4E-05 0.700 1.000 36 1994 2017
dbSNP: rs33946261
rs33946261
MSH2
1 1.000 0.160 2 47403329 missense variant C/G;T snv 2.2E-04 1.8E-04 0.700 1.000 36 1994 2017
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: rs63750732
rs63750732
MSH2
1 1.000 0.160 2 47416321 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 36 1994 2017
dbSNP: rs63750757
rs63750757
MSH2
1 1.000 0.160 2 47480737 missense variant G/A snv 9.9E-05 7.7E-05 0.700 1.000 36 1994 2017
dbSNP: rs267607994
rs267607994
MSH2
3 0.925 0.160 2 47476448 missense variant C/T snv 0.700 1.000 34 1994 2017
dbSNP: rs267607996
rs267607996
MSH2
2 0.925 0.160 2 47476382 missense variant G/A;C snv 0.700 1.000 34 1994 2017
dbSNP: rs267608007
rs267608007
MSH2
1 1.000 0.160 2 47478303 missense variant G/A;C;T snv 0.700 1.000 34 1994 2017