Research
Tag

Mismatch Repair

6 genetic variants with this tag.

RSID Gene Description Category
rs1635501 EXO1 EXO1 rs1635501 Intronic variant in EXO1 (exonuclease 1), a DNA mismatch repair and meiotic r... Gamete Quality & DNA Repair Strong
rs1799977 MLH1 Ile219Val Missense variant in the MLH1 ATPase domain (c.655A>G, p.Ile219Val) that subst... Gamete Quality & DNA Repair Moderate
rs1800734 MLH1 -93G>A Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcript... Cancer Risk Strong
rs2303428 MSH2 Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon ... Gamete Quality & DNA Repair Moderate
rs4987188 MSH2 Gly322Asp Missense variant in the MSH2 connector domain (c.965G>A, p.Gly322Asp) that su... Gamete Quality & DNA Repair Moderate
rs72755295 EXO1 EXO1 mismatch repair variant Intronic regulatory variant in EXO1 (exonuclease 1) that increases EXO1 enhan... Gamete Quality & DNA Repair Moderate