MLH1, mutL homolog 1, 4292

N. diseases: 31; N. variants: 711
Disease: Malignant tumor of colon ×
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63751012
rs63751012 		0.851 0.200 3 36993656 stop gained G/A;C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs1114167435
rs1114167435 		1.000 0.080 3 37025932 frameshift variant AG/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1434898623
rs1434898623 		1.000 0.080 3 37040295 splice donor variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1553651073
rs1553651073 		0.925 0.160 3 37025834 frameshift variant CA/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587779018
rs587779018 		0.925 0.160 3 37008855 frameshift variant T/-;TT delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587779021
rs587779021 		0.851 0.200 3 37008905 missense variant G/A;C snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63750206
rs63750206 		0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63750547
rs63750547 		0.925 0.160 3 37020312 stop gained T/C;G snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63750691
rs63750691 		0.882 0.160 3 37017521 stop gained C/G snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63750781
rs63750781 		0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 0