Variant (rsID / SNP)

rs1078761

rs1078761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BPIFB1. Location: chromosome 20, position 31,876,681. The table records no clinical significance for this variant.

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Reference-table entries

BPIFB1Not classified

Variant type: missense_variant
Chromosome / position: 20:31876681
HGVS: NM_033197.3,c.250A>G,p.Ile84Val
Allele change: Missense_I84V

Associated conditions / phenotypes

Cystic Fibrosis|Lung Disease|Fibrosis of Extraocular Muscles, Congenital, 1

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.