Gene: MSH2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751207
rs63751207
MSH2
C 0.710 GeneticVariation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
dbSNP: rs63751624
rs63751624
MSH2
0.710 GeneticVariation BEFREE Three Lynch syndrome cases were identified: MSH2 c.2634G>A pathogenic mutation, c.(1896+1_1897-1)_(*193_?)del , and one fulfilling the Amsterdam criteria, with MLH1 and PMS2 deficiency, but no identifiable pathogenic mutation. 31647837

2019
dbSNP: rs1060501991
rs1060501991
MSH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085308057
rs1085308057
MSH2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167815
rs1114167815
MSH2
CA 0.700 GeneticVariation CLINVAR Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). 17939062

2008
dbSNP: rs1114167852
rs1114167852
MSH2
A 0.700 GeneticVariation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
dbSNP: rs12476364
rs12476364
MSH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs12476364
rs12476364
MSH2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1278858560
rs1278858560
MSH2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553348760
rs1553348760
MSH2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553352462
rs1553352462
MSH2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553365711
rs1553365711
MSH2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553368590
rs1553368590
MSH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553369194
rs1553369194
MSH2
G 0.700 GeneticVariation CLINVAR Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome. 20459533

2010
dbSNP: rs193922372
rs193922372
MSH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922375
rs193922375
MSH2
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs202145681
rs202145681
MSH2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267607689
rs267607689
MSH2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267607917
rs267607917
MSH2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs267607924
rs267607924
MSH2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267607925
rs267607925
MSH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267607929
rs267607929
MSH2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267607933
rs267607933
MSH2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs267607940
rs267607940
MSH2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267607943
rs267607943
MSH2
T 0.700 GeneticVariation CLINVAR