Variant (rsID / SNP)

rs71532861

rs71532861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,491. Clinical significance in the table: Uncertain significance.

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Reference-table entries

WFS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:6303491
Cytoband: 4p16.1
HGVS: NM_006005.3(WFS1):c.1969A>G (p.Met657Val)
Allele change: Missense_M657V

Associated conditions / phenotypes

WFS1-Related Spectrum Disorders|Autosomal dominant nonsyndromic hearing loss 6|Spastic ataxia

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.