Variant (rsID / SNP)

rs12995778

rs12995778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYSF. Location: chromosome 2, position 71,847,943. 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: 2:71847943
Cytoband: 2p13.2
HGVS: NM_001130987.2(DYSF):c.4527+204C>A
Allele change: Silent

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.