Variant (rsID / SNP)

rs6546693

rs6546693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,680,632. Clinical significance in the table: Benign.

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Reference-table entries

DYSFBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:71680632
Cytoband: 2p13.2
HGVS: NM_003494.3(DYSF):c.-497T>C

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.