Variant (rsID / SNP)
rs5918
rs5918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGB3. Location: chromosome 17, position 45,360,730. Clinical significance in the table: Benign.
Reference-table entries
ITGB3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:45360730
- Cytoband
- 17q21.32
- HGVS
- NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro)
- Allele change
- Missense_L59P
Associated conditions / phenotypes
PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM|Glanzmann thrombasthenia|Myocardial infarction, susceptibility to
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.