MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Lynch Syndrome ×
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: rs63749993
rs63749993 		0.882 0.200 2 47476424 missense variant T/G snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.030 0.667 3 2006 2012
dbSNP: rs146421227
rs146421227 		0.882 0.160 2 47482912 missense variant T/A snv 7.0E-06
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs587779139
rs587779139 		0.925 0.160 2 47476513 stop gained C/G;T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs63750875
rs63750875 		0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs63751147
rs63751147 		0.925 0.160 2 47416375 missense variant T/C;G snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs63751192
rs63751192 		0.925 0.160 2 47429878 frameshift variant -/CGAC delins
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs63751236
rs63751236 		0.882 0.160 2 47475064 missense variant C/G;T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs63751624
rs63751624 		0.925 0.160 2 47480871 missense variant G/A;C snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019