Variant (rsID / SNP)

rs59901247

rs59901247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPAS1. Location: chromosome 2, position 46,609,572. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EPAS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:46609572
Cytoband: 2p21
HGVS: NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro)
Allele change: Missense_T766P

Associated conditions / phenotypes

Erythrocytosis, familial, 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.