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: 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: rs63750398
rs63750398
MSH2
5 0.925 0.160 2 47476451 missense variant G/A;T snv 0.800 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: rs63750126
rs63750126
MSH2
1 1.000 0.160 2 47410209 missense variant T/A;C snv 0.800 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
dbSNP: rs587779163
rs587779163
MSH2
4 0.882 0.160 2 47410220 missense variant T/G snv 0.700 1.000 34 1994 2017
dbSNP: rs63750234
rs63750234
MSH2
2 0.925 0.160 2 47476381 missense variant G/A;C snv 0.700 1.000 34 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: rs63750582
rs63750582
MSH2
3 0.925 0.160 2 47410217 missense variant G/A;T snv 0.700 1.000 34 1994 2017
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: rs63750624
rs63750624
MSH2
6 0.925 0.160 2 47410211 missense variant G/A snv 0.800 1.000 29 1994 2016
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: rs1553350676
rs1553350676
MSH2
1 1.000 0.160 2 47410143 missense variant A/G snv 0.700 1.000 20 1994 2012
dbSNP: rs267607981
rs267607981
MSH2
1 1.000 0.160 2 47475177 missense variant A/G snv 0.700 1.000 20 1994 2012
dbSNP: rs267608023
rs267608023
MSH2
1 1.000 0.160 2 47482936 missense variant A/C snv 0.700 1.000 20 1994 2012
dbSNP: rs587779116
rs587779116
MSH2
1 1.000 0.160 2 47475181 missense variant A/G snv 0.700 1.000 20 1994 2012
dbSNP: rs587779128
rs587779128
MSH2
1 1.000 0.160 2 47476384 missense variant AAA/GCC mnv 0.700 1.000 20 1994 2012
dbSNP: rs63750350
rs63750350
MSH2
1 1.000 0.160 2 47482801 missense variant A/G snv 0.700 1.000 20 1994 2012
dbSNP: rs63750492
rs63750492
MSH2
2 0.925 0.160 2 47466663 missense variant G/T snv 0.700 1.000 20 1994 2012
dbSNP: rs63750657
rs63750657
MSH2
1 1.000 0.160 2 47475072 missense variant G/A;C;T snv 0.700 1.000 20 1994 2012
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