Variant (rsID / SNP)

rs56393026

rs56393026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,304,125. 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: 4:6304125
Cytoband: 4p16.1
HGVS: NM_006005.3(WFS1):c.2603G>A (p.Arg868His)
Allele change: Missense_R868H

Associated conditions / phenotypes

Autistic behavior|Autosomal dominant nonsyndromic hearing loss 6|WFS1-Related Spectrum Disorders

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.