Variant (rsID / SNP)

rs1124

rs1124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP1, SFTPC. Location: chromosome 8, position 22,021,517. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BMP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:22021517
Cytoband: 8p21.3
HGVS: NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn)
Allele change: Missense_S133N

Associated conditions / phenotypes

Idiopathic Pulmonary Fibrosis|Pulmonary Surfactant Metabolism Dysfunction, Dominant|Osteogenesis Imperfecta, Recessive|Surfactant metabolism dysfunction, pulmonary, 2

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.