Variant (rsID / SNP)

rs1046314

rs1046314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,955. Clinical significance in the table: Benign.

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Reference-table entries

WFS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:6303955
Cytoband: 4p16.1
HGVS: NM_006005.3(WFS1):c.2433G>A (p.Lys811=)
Allele change: Synonymous_K811K

Associated conditions / phenotypes

WFS1-Related Spectrum Disorders|Autosomal dominant nonsyndromic hearing loss 6|Sensorineural hearing loss disorder|Diabetes mellitus

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.