Tag
RNA Splicing
4 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs2303428 | MSH2 | Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon ... | Gamete Quality & DNA Repair | Moderate | |
| rs113809142 | ABCA7 ABCA7 splice donor variant (c.4416+2T>G) | Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing hap... | Neurology & Cognition | Strong | |
| rs36211723 | MYBPC3 Asp770Asn (c.2308G>A) | Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, ca... | Cardiomyopathy & Structural Heart | Strong | |
| rs2523506 | DDX39B | Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ... | Neurology & Cognition | Strong |