Variant (rsID / SNP)

rs149668719

rs149668719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS9. Location: chromosome 7, position 33,573,576. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BBS9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:33573576
Cytoband: 7p14.3
HGVS: NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
Allele change: Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 9

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.