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: rs63750084
rs63750084
MSH2
3 1.000 0.160 2 47482786 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs63750193
rs63750193
MLH1
6 0.851 0.160 3 37040276 missense variant T/C snv 0.700 0
dbSNP: rs63750266
rs63750266
MLH1
1 1.000 0.160 3 37001046 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs63750453
rs63750453
MLH1
5 0.882 0.160 3 37001051 missense variant G/A 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: rs63750648
rs63750648
MLH1 ; EPM2AIP1
4 0.882 0.160 3 36993602 missense variant A/T snv 0.700 0
dbSNP: rs63750704
rs63750704
MSH2
4 0.925 0.160 2 47410115 frameshift variant CA/- del 0.700 0
dbSNP: rs63750706
rs63750706
MLH1 ; EPM2AIP1
4 0.882 0.160 3 36993609 missense variant C/A;T snv 0.700 0
dbSNP: rs63750773
rs63750773
MSH2
1 1.000 0.160 2 47410212 missense variant G/C snv 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: rs63750794
rs63750794
MSH2
1 1.000 0.160 2 47476529 missense variant C/G;T snv 0.700 0
dbSNP: rs63750808
rs63750808
MSH2
2 1.000 0.160 2 47482797 stop gained C/T snv 0.700 0
dbSNP: rs63750832
rs63750832
MSH6 ; FBXO11
1 1.000 0.160 2 47800075 stop gained C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs63750887
rs63750887
MSH2
1 1.000 0.160 2 47408482 missense variant A/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs63750997
rs63750997
MSH2
1 1.000 0.160 2 47470988 missense variant A/T snv 8.0E-06 0.700 0
dbSNP: rs63751007
rs63751007
MSH2
3 1.000 0.160 2 47482805 frameshift variant C/- delins 0.700 0
dbSNP: rs63751022
rs63751022
MLH1
3 0.925 0.160 3 37050523 stop gained G/A snv 0.700 0
dbSNP: rs63751119
rs63751119
MSH2
3 0.925 0.160 2 47478312 missense variant G/A;C snv 0.700 0
dbSNP: rs63751155
rs63751155
MSH2
4 0.925 0.160 2 47478289 stop gained C/A;G;T snv 0.700 0
dbSNP: rs63751197
rs63751197
MLH1
1 1.000 0.160 3 37020412 inframe deletion ATC/- delins 0.700 0
dbSNP: rs63751202
rs63751202
MLH1
5 0.851 0.160 3 37048578 missense variant T/C;G snv 0.700 0
dbSNP: rs63751224
rs63751224
MSH2
1 1.000 0.160 2 47476502 missense variant C/T snv 7.0E-06 0.700 0