Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome. 25345868

2015

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Structure of the human MutSalpha DNA lesion recognition complex. 17531815

2007

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. 16283884

2005

dbSNP: rs63750741
rs63750741
C 0.700 CausalMutation CLINVAR Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. 14961575

2004

dbSNP: rs63750741
rs63750741
C 0.700 GeneticVariation CLINVAR