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: rs63749909
rs63749909
MLH1
0.925 0.160 3 37028891 missense variant T/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 1.000 20 1996 2012
dbSNP: rs63749990
rs63749990
MLH1
0.925 0.160 3 37000985 missense variant T/G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63749994
rs63749994
MLH1 ; EPM2AIP1
1.000 0.080 3 36993638 missense variant GC/TG mnv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750012
rs63750012
MLH1
1.000 0.080 3 37011827 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 1.000 20 1996 2012
dbSNP: rs63750016
rs63750016
MLH1
0.925 0.160 3 37047553 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 1.000 20 1996 2012
dbSNP: rs63750059
rs63750059
MLH1
0.925 0.160 3 37042276 missense variant T/A;C;G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750062
rs63750062
MLH1
1.000 0.080 3 37042293 missense variant A/T snv 8.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750144
rs63750144
MLH1
0.925 0.160 3 37017599 missense variant G/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750193
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750211
rs63750211
MLH1
0.882 0.160 3 37008904 missense variant A/G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 1.000 20 1996 2013
dbSNP: rs63750240
rs63750240
MLH1
1.000 0.080 3 37047679 missense variant A/C;G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750271
rs63750271
MLH1
1.000 0.080 3 37040279 missense variant A/C;G snv 8.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750281
rs63750281
MLH1
0.925 0.160 3 36996705 missense variant T/A snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750286
rs63750286
MLH1
1.000 0.080 3 37020387 missense variant G/A;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750289
rs63750289
MLH1
1.000 0.080 3 37040273 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750303
rs63750303
MLH1
0.882 0.160 3 37014485 missense variant G/A;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750314
rs63750314
MLH1
1.000 0.080 3 37028827 missense variant G/C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750360
rs63750360
MLH1
1.000 0.080 3 37017560 missense variant C/G snv 7.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750365
rs63750365
MLH1
1.000 0.080 3 37025919 missense variant G/A snv 3.4E-04 3.3E-04
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750453
rs63750453
MLH1
0.882 0.160 3 37001051 missense variant G/A snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750507
rs63750507
MLH1
0.925 0.160 3 37004414 missense variant T/G snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750511
rs63750511
MLH1
0.925 0.160 3 37040252 missense variant A/C;T snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750515
rs63750515
MLH1
0.925 0.160 3 37011828 missense variant T/A;C;G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012
dbSNP: rs63750517
rs63750517
MLH1
1.000 0.080 3 37017590 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 1.000 20 1996 2012