Variant (rsID / SNP)

rs140760439

rs140760439 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZSWIM6. Location: chromosome 5, position 60,825,947. Clinical significance in the table: Benign.

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Reference-table entries

ZSWIM6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:60825947
Cytoband: 5q12.1
HGVS: NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)
Allele change: Missense_V636M

Associated conditions / phenotypes

Acromelic frontonasal dysostosis

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.