Variant (rsID / SNP)
rs5515
rs5515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLK1. Location: chromosome 19, position 51,323,676. Clinical significance in the table: Affects.
Reference-table entries
KLK1Other
- Clinical significance (as recorded)
- Affects
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:51323676
- Cytoband
- 19q13.33
- HGVS
- NM_002257.4(KLK1):c.230G>A (p.Arg77His)
- Allele change
- Missense_R77H
Associated conditions / phenotypes
Kallikrein, decreased urinary activity of
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.