Variant (rsID / SNP)

rs7080536

rs7080536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HABP2. Location: chromosome 10, position 115,348,046. Clinical significance in the table: Likely benign.

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Reference-table entries

HABP2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:115348046
Cytoband: 10q25.3
HGVS: NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu)
Allele change: Missense_G508E

Associated conditions / phenotypes

Venous thromboembolism, susceptibility to|FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM|THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO|Factor VII Marburg I Variant Thrombophilia

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.