MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Non-Polyposis Colon Cancer Type 2 ×
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: rs63750430
rs63750430 		1.000 0.080 3 37025752 missense variant G/A;C;T snv 5.2E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 35 1996 2017
dbSNP: rs140195825
rs140195825 		1.000 0.080 3 37050634 missense variant A/G snv 7.6E-05 3.5E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs202038499
rs202038499 		1.000 0.080 3 37025977 missense variant A/C snv 1.6E-04 7.0E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs2020873
rs2020873 		1.000 0.080 3 37050534 missense variant C/T snv 5.6E-03 2.3E-02
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs267607876
rs267607876 		1.000 0.080 3 37048587 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs267607887
rs267607887 		1.000 0.080 3 37048910 missense variant T/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs367654552
rs367654552 		1.000 0.080 3 36993599 missense variant C/G;T snv 4.0E-06; 3.2E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs587779004
rs587779004 		1.000 0.080 3 37004420 missense variant A/C;G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs587779005
rs587779005 		1.000 0.080 3 37004425 missense variant G/C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs61751644
rs61751644 		1.000 0.080 3 37025763 missense variant C/A;G;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63749994
rs63749994 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750012
rs63750012 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750062
rs63750062 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750240
rs63750240 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750271
rs63750271 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750286
rs63750286 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750289
rs63750289 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750314
rs63750314 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750360
rs63750360 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750365
rs63750365 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750517
rs63750517 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750642
rs63750642 		1.000 0.080 3 37014532 missense variant C/G;T snv 4.0E-06
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750696
rs63750696 		1.000 0.080 3 37014455 missense variant A/G snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63751661
rs63751661 		1.000 0.080 3 36996708 missense variant G/A;C snv
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 20 1996 2012
dbSNP: rs63750760
rs63750760 		1.000 0.080 3 37025751 missense variant C/T snv 6.0E-05 4.9E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 15 2001 2017