Variant (rsID / SNP)

rs4253527

rs4253527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFTPA1. Location: chromosome 10, position 81,373,777. Clinical significance in the table: Benign.

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Reference-table entries

SFTPA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:81373777
Cytoband: 10q22.3
HGVS: NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp)
Allele change: Missense_R219W

Associated conditions / phenotypes

Pulmonary fibrosis, idiopathic, susceptibility to

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.