Variant (rsID / SNP)

rs111966833

rs111966833 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK1. Location: chromosome 5, position 147,207,616. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPINK1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:147207616
Cytoband: 5q32
HGVS: NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
Allele change: Missense_P55S

Associated conditions / phenotypes

Hereditary pancreatitis|Inborn genetic diseases|Tropical pancreatitis

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.