MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Colon Carcinoma ×
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: rs876658657
rs876658657 		0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.040 0.750 4 2008 2017
dbSNP: rs1418586322
rs1418586322 		0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs1799977
rs1799977 		0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1800734
rs1800734 		0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs63751701
rs63751701 		0.925 0.080 3 36993663 stop gained G/A;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs779795819
rs779795819 		0.925 0.080 3 37048526 frameshift variant -/ATTG delins 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs876658198
rs876658198 		0.925 0.080 3 37028855 missense variant G/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015