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: rs376155665
rs376155665
EPCAM
3 0.925 0.200 2 47378939 intron variant A/C;G;T snv 4.0E-06; 7.6E-05; 4.0E-06; 8.0E-06 0.700 1.000 3 2013 2017
dbSNP: rs1558438591
rs1558438591
EPCAM
1 2 47379820 frameshift variant G/- delins 0.700 0
dbSNP: rs878854485
rs878854485
EPCAM
1 2 47373519 stop gained C/T snv 0.700 0
dbSNP: rs878854496
rs878854496
EPCAM
1 2 47386570 splice acceptor variant A/G snv 0.700 0
dbSNP: rs878854491
rs878854491
EPCAM ; MIR559
1 2 47377045 stop gained C/T snv 7.0E-06 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 1.000 18 1995 2013
dbSNP: rs63750217
rs63750217
MLH1
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 15 1996 2015
dbSNP: rs63751711
rs63751711
MLH1
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.700 1.000 15 1996 2010
dbSNP: rs63750206
rs63750206
MLH1
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 1.000 14 1995 2013
dbSNP: rs63750855
rs63750855
MLH1
4 0.925 0.160 3 37028858 frameshift variant C/-;CC delins 0.700 1.000 13 1991 2015
dbSNP: rs63750437
rs63750437
MLH1
4 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 12 1997 2014
dbSNP: rs63751608
rs63751608
MLH1
3 0.925 0.160 3 37042321 missense variant T/C snv 0.700 1.000 11 1995 2013
dbSNP: rs63751662
rs63751662
MLH1
3 0.925 0.160 3 37048609 missense variant G/A;T snv 0.700 1.000 11 1999 2016
dbSNP: rs267607759
rs267607759
MLH1
2 1.000 0.160 3 37011818 splice acceptor variant A/C;G snv 0.700 1.000 10 1995 2016
dbSNP: rs267607906
rs267607906
MLH1
4 1.000 0.160 3 37050576 stop gained A/C;G;T snv 0.700 1.000 10 1996 2016
dbSNP: rs63751194
rs63751194
MLH1
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 10 2001 2010
dbSNP: rs63751657
rs63751657
MLH1
4 0.925 0.160 3 37042331 splice region variant G/A;C;T snv 0.700 1.000 10 2003 2015
dbSNP: rs63750610
rs63750610
MLH1
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.700 1.000 9 2001 2012
dbSNP: rs878853787
rs878853787
MLH1
1 3 37050630 stop gained -/A delins 0.700 1.000 9 1996 2016
dbSNP: rs267607789
rs267607789
MLH1
3 1.000 0.160 3 37014545 splice donor variant G/A;C;T snv 0.700 1.000 8 1995 2010
dbSNP: rs267607901
rs267607901
MLH1
5 0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 0.700 1.000 8 1996 2016
dbSNP: rs41542214
rs41542214
MLH1
2 1.000 0.160 3 37048979 stop gained C/A;T snv 4.0E-06 0.700 1.000 8 1994 2016
dbSNP: rs63749909
rs63749909
MLH1
4 0.925 0.160 3 37028891 missense variant T/A;C snv 7.0E-06 0.700 1.000 8 1996 2013
dbSNP: rs63751247
rs63751247
MLH1
5 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 8 1999 2013
dbSNP: rs63751310
rs63751310
MLH1
6 0.851 0.200 3 37048595 stop gained C/T snv 0.700 1.000 8 1996 2015