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: rs41285097
rs41285097
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993506 5 prime UTR variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
3 1.000 0.080 3 36993521 5 prime UTR variant C/A;T snv 4.0E-06 0.700 1.000 7 2005 2016
dbSNP: rs367654552
rs367654552
MLH1 ; EPM2AIP1
1 1.000 0.080 3 36993599 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.700 1.000 20 1996 2012
dbSNP: rs63750648
rs63750648
MLH1 ; EPM2AIP1
4 0.882 0.160 3 36993602 missense variant A/T snv 0.700 1.000 20 1996 2012
dbSNP: rs63750706
rs63750706
MLH1 ; EPM2AIP1
4 0.882 0.160 3 36993609 missense variant C/A;T snv 0.700 1.000 20 1996 2012
dbSNP: rs63749838
rs63749838
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993620 missense variant A/G;T snv 0.700 0
dbSNP: rs63750792
rs63750792
MLH1 ; EPM2AIP1
4 0.925 0.160 3 36993630 missense variant C/T snv 0.700 0
dbSNP: rs587779045
rs587779045
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993631 frameshift variant A/- del 0.700 0
dbSNP: rs63750656
rs63750656
MLH1 ; EPM2AIP1
4 0.882 0.160 3 36993632 missense variant G/T snv 0.700 1.000 35 1996 2017
dbSNP: rs63749994
rs63749994
MLH1 ; EPM2AIP1
1 1.000 0.080 3 36993638 missense variant GC/TG mnv 0.700 1.000 20 1996 2012
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993651 missense variant T/G snv 0.700 1.000 20 1996 2012
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
3 0.882 0.200 3 36993651 missense variant TG/AC mnv 0.700 0
dbSNP: rs63751012
rs63751012
MLH1 ; EPM2AIP1
5 0.851 0.200 3 36993656 stop gained G/A;C;T snv 0.700 0
dbSNP: rs63750580
rs63750580
MLH1 ; EPM2AIP1
4 0.925 0.160 3 36993659 missense variant A/C;G snv 0.700 1.000 20 1996 2012
dbSNP: rs267607706
rs267607706
MLH1 ; EPM2AIP1
3 0.882 0.160 3 36993661 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 20 1996 2012
dbSNP: rs267607709
rs267607709
MLH1 ; EPM2AIP1
3 0.925 0.160 3 36993664 splice donor variant G/A;T snv 0.700 0
dbSNP: rs63751094
rs63751094
MLH1
5 0.925 0.160 3 36996624 stop lost A/G;T snv 0.700 0
dbSNP: rs63751109
rs63751109
MLH1
2 0.925 0.160 3 36996633 missense variant C/A;T snv 0.800 1.000 15 2001 2017
dbSNP: rs63751428
rs63751428
MLH1
5 0.882 0.160 3 36996686 stop gained C/A;T snv 0.700 0
dbSNP: rs587778955
rs587778955
MLH1
2 0.925 0.160 3 36996691 missense variant C/A;T snv 4.0E-06 0.700 1.000 20 1996 2012
dbSNP: rs63750952
rs63750952
MLH1
1 1.000 0.080 3 36996693 missense variant A/G snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs63750206
rs63750206
MLH1
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.800 1.000 40 1996 2017
dbSNP: rs63749939
rs63749939
MLH1
6 0.851 0.160 3 36996702 missense variant G/A snv 0.700 0
dbSNP: rs63750281
rs63750281
MLH1
2 0.925 0.160 3 36996705 missense variant T/A snv 0.700 1.000 20 1996 2012
dbSNP: rs63751661
rs63751661
MLH1
1 1.000 0.080 3 36996708 missense variant G/A;C snv 0.700 1.000 20 1996 2012