Variant (rsID / SNP)

rs2243639

rs2243639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFTPD. Location: chromosome 10, position 81,701,722. Clinical significance in the table: Benign.

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Reference-table entries

SFTPDBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:81701722
Cytoband: 10q22.3
HGVS: NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala)
Allele change: Missense_T180A

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.