Variant (rsID / SNP)

rs150797250

rs150797250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BBS2. Location: chromosome 16, position 56,518,760. 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: 16:56518760
Cytoband: 16q13
HGVS: NM_031885.5(BBS2):c.2079G>A (p.Gln693=)
Allele change: Synonymous_Q693Q

Associated conditions / phenotypes

Bardet-Biedl syndrome|Bardet-Biedl syndrome 2

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.