Variant (rsID / SNP)

rs186702546

rs186702546 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPBAR1. Location: chromosome 2, position 219,127,776. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GPBAR1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:219127776
Cytoband: 2q35
HGVS: NM_170699.3(GPBAR1):c.329G>A (p.Arg110His)
Allele change: Missense_R110H

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.