Variant (rsID / SNP)

rs11373

rs11373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,545,175. Clinical significance in the table: Benign.

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Reference-table entries

BBS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:56545175
Cytoband: 16q13
HGVS: NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
Allele change: Missense_I123V

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 2|Bardet-Biedl syndrome 1|Retinitis pigmentosa 74

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.