Tag
Genomic Stability
9 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs1799977 | MLH1 Ile219Val | Missense variant in the MLH1 ATPase domain (c.655A>G, p.Ile219Val) that subst... | Gamete Quality & DNA Repair | Moderate | |
| rs10848087 | PIWIL1 PIWIL1 G>A (c.1128G>A) | Synonymous variant in PIWIL1 associated with increased epithelial ovarian can... | Fertility & Ovarian Function | Emerging | |
| 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 lever domain (c.965G>A, p.Gly322Asp) that substi... | Gamete Quality & DNA Repair | Moderate | |
| rs2153157 | SYCP2L SYCP2L splice-efficiency variant | Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more... | Fertility & Ovarian Function | Strong | |
| rs1801516 | ATM D1853N | Missense variant in the ATM DNA-damage kinase associated with increased radia... | Longevity & Aging | Moderate | |
| rs28416520 | PIWIL1 PIWIL1 piRNA Pathway Variant | A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ... | Fertility & Ovarian Function | Moderate | |
| rs9393800 | SYCP2L SYCP2L GWAS hit for age at natural menopause | Intronic variant in SYCP2L on chromosome 6p24.2; the G allele associates with... | Fertility & Ovarian Function | Strong | |
| rs4975605 | TERT | Intronic TERT variant influencing telomere maintenance, associated with testi... | Longevity & Aging | Moderate |