Variant (rsID / SNP)

rs52795588

rs52795588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCKAR. Location: chromosome 4, position 26,483,454. Clinical significance in the table: Benign.

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Reference-table entries

CCKARBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:26483454
Cytoband: 4p15.2
HGVS: NM_000730.3(CCKAR):c.1093G>A (p.Val365Ile)
Allele change: Missense_V365I

Associated conditions / phenotypes

CHOLECYSTOKININ A RECEPTOR POLYMORPHISM

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.