Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63751275
rs63751275
MLH1
0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 0 2001 2015
dbSNP: rs34213726
rs34213726
MLH1
1.000 0.080 3 37025925 missense variant A/C snv 7.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs35502531
rs35502531
MLH1
0.827 0.160 3 37047639 missense variant AA/GC mnv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs4986984
rs4986984
MLH1
0.882 0.080 3 37012071 missense variant C/A;T snv 3.7E-04
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs55907433
rs55907433
MLH1
0.925 0.120 3 37048583 missense variant A/G;T snv 1.1E-03; 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63749792
rs63749792
MLH1
0.925 0.160 3 37048538 missense variant C/A;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63749838
rs63749838
MLH1 ; EPM2AIP1
0.925 0.160 3 36993620 missense variant A/G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63749859
rs63749859
MLH1
0.925 0.160 3 37000976 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63749875
rs63749875
MLH1
1.000 0.080 3 37050552 missense variant T/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750792
rs63750792
MLH1 ; EPM2AIP1
0.925 0.160 3 36993630 missense variant C/T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750825
rs63750825
MLH1
1.000 0.080 3 37048527 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750866
rs63750866
MLH1
0.925 0.160 3 37006992 missense variant G/A;C snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750876
rs63750876
MLH1
1.000 0.080 3 37047595 missense variant C/G;T snv 1.6E-04; 1.6E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750891
rs63750891
MLH1
0.925 0.160 3 37008824 missense variant T/G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750948
rs63750948
MLH1
0.925 0.160 3 37014493 missense variant T/C;G snv 3.6E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750952
rs63750952
MLH1
1.000 0.080 3 36996693 missense variant A/G snv 3.6E-05 2.8E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750956
rs63750956
MLH1
1.000 0.080 3 37028829 missense variant T/A snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63750993
rs63750993
MLH1
0.925 0.160 3 37020336 missense variant A/C;G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751012
rs63751012
MLH1 ; EPM2AIP1
0.851 0.200 3 36993656 stop gained G/A;C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751021
rs63751021
MLH1
1.000 0.080 3 37011851 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751049
rs63751049
MLH1
1.000 0.080 3 37020402 missense variant T/A;C snv 4.7E-04
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751083
rs63751083
MLH1
1.000 0.080 3 37028795 missense variant G/A snv 8.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751094
rs63751094
MLH1
0.925 0.160 3 36996624 stop lost A/G;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751145
rs63751145
MLH1
1.000 0.080 3 37028848 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0
dbSNP: rs63751176
rs63751176
MLH1
1.000 0.080 3 37047543 missense variant G/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 0