Variant (rsID / SNP)

rs3217756

rs3217756 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS7, CCNA2. Location: chromosome 4, position 122,745,813. Clinical significance in the table: Benign.

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Reference-table entries

BBS7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:122745813
Cytoband: 4q27
HGVS: NM_176824.3(BBS7):c.*1202G>A
Allele change: Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome 7

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.