MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Malignant neoplasm of stomach ×
Source: ALL
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: rs63749803
rs63749803 		1.000 0.080 3 37004421 missense variant T/C;G snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63750297
rs63750297 		1.000 0.080 3 37004412 missense variant C/A;G;T snv 8.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs63751047
rs63751047 		1.000 0.080 3 37048525 missense variant C/A;G snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1800734
rs1800734 		0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs56250509
rs56250509 		0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs587778883
rs587778883 		0.807 0.200 3 37025648 frameshift variant A/- del
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs63750114
rs63750114 		0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011