Variant (rsID / SNP)

rs148373909

rs148373909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNASE1. Location: chromosome 16, position 3,707,257. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNASE1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:3707257
Cytoband: 16p13.3
HGVS: NM_005223.4(DNASE1):c.619C>T (p.Arg207Cys)
Allele change: Missense_R207C

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.