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: rs63750937
rs63750937
MSH2
1 1.000 0.080 2 47478424 frameshift variant CT/- del 0.700 1.000 5 2005 2013
dbSNP: rs587783055
rs587783055
MSH2
1 1.000 0.080 2 47429935 frameshift variant -/A delins 0.700 1.000 4 1998 2014
dbSNP: rs587783053
rs587783053
MSH2
1 1.000 0.080 2 47478364 frameshift variant A/- delins 0.700 1.000 2 2006 2014
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: rs143009528
rs143009528
MLH1
2 0.925 0.120 3 37025734 missense variant A/C;G;T snv 3.2E-05; 4.8E-05; 8.0E-06 0.700 1.000 35 1996 2017
dbSNP: rs35045067
rs35045067
MLH1
2 0.925 0.160 3 37048557 missense variant A/C;G snv 4.4E-05 0.700 1.000 35 1996 2017
dbSNP: rs63750430
rs63750430
MLH1
1 1.000 0.080 3 37025752 missense variant G/A;C;T snv 5.2E-05 0.700 1.000 35 1996 2017
dbSNP: rs63750449
rs63750449
MLH1
2 0.925 0.120 3 37047640 missense variant A/C;G;T snv 3.5E-03; 8.4E-05 0.700 1.000 35 1996 2017
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: rs63750693
rs63750693
MLH1
3 0.882 0.160 3 37047652 missense variant T/A;C snv 0.800 1.000 35 1996 2017
dbSNP: rs63750710
rs63750710
MLH1
3 0.925 0.160 3 37020411 missense variant A/C snv 0.800 1.000 35 1996 2017
dbSNP: rs63751194
rs63751194
MLH1
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.800 1.000 31 2001 2017
dbSNP: rs63750217
rs63750217
MLH1
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.800 1.000 30 1996 2013
dbSNP: rs63750610
rs63750610
MLH1
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.800 1.000 29 1996 2014
dbSNP: rs140195825
rs140195825
MLH1
1 1.000 0.080 3 37050634 missense variant A/G snv 7.6E-05 3.5E-05 0.700 1.000 20 1996 2012
dbSNP: rs202038499
rs202038499
MLH1
1 1.000 0.080 3 37025977 missense variant A/C snv 1.6E-04 7.0E-05 0.700 1.000 20 1996 2012
dbSNP: rs2020873
rs2020873
MLH1
1 1.000 0.080 3 37050534 missense variant C/T snv 5.6E-03 2.3E-02 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: rs267607727
rs267607727
MLH1
3 0.925 0.160 3 37001049 splice donor variant G/A;T snv 0.700 1.000 20 1996 2012
dbSNP: rs267607876
rs267607876
MLH1
1 1.000 0.080 3 37048587 missense variant T/C snv 0.700 1.000 20 1996 2012
dbSNP: rs267607887
rs267607887
MLH1
1 1.000 0.080 3 37048910 missense variant T/C snv 0.700 1.000 20 1996 2012
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: rs41295284
rs41295284
MLH1
2 0.925 0.160 3 37047607 missense variant T/A snv 1.9E-04 1.5E-04 0.700 1.000 20 1996 2012
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: rs587778964
rs587778964
MLH1
4 0.882 0.160 3 37048604 missense variant A/C;T snv 0.700 1.000 20 1996 2012