MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
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: rs63750138
rs63750138
0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-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 2008 2008
dbSNP: rs63750741
rs63750741
0.827 0.200 2 47799329 missense variant T/C snv 1.2E-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 2005 2005
dbSNP: rs773162893
rs773162893
0.925 0.160 2 47800286 missense variant C/A;G;T snv 8.0E-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 2019 2019
dbSNP: rs786201042
rs786201042
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-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 2015 2015