Variant (rsID / SNP)

rs79206939

rs79206939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FTO. Location: chromosome 16, position 53,860,052. Clinical significance in the table: Benign.

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Reference-table entries

FTOBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:53860052
Cytoband: 16q12.2
HGVS: NM_001080432.3(FTO):c.400G>A (p.Ala134Thr)
Allele change: Missense_A134T

Associated conditions / phenotypes

Lethal polymalformative syndrome, Boissel type

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.