Gene entry
SPINK1
serine peptidase inhibitor Kazal type 1
- Chromosome
- 5
- Cytoband
- 5q32
- Variants (rsID)
- 14
SPINK1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q32). Its official name is “serine peptidase inhibitor Kazal type 1”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs111966833Benignsingle nucleotide variantHereditary pancreatitis|Inborn genetic diseases|Tropical pancreatitis
- rs11319Benignsingle nucleotide variantHereditary pancreatitis
- rs35877720Benignsingle nucleotide variantHereditary pancreatitis|Inborn genetic diseases
- rs148954387Conflicting interpretationssingle nucleotide variantHereditary pancreatitis|Chronic pancreatitis|Hereditary pancreatitis|Tropical pancreatitis|Inborn genetic diseases|Diabetes mellitus
- rs17107315Conflicting interpretationssingle nucleotide variantPancreatitis, chronic, susceptibility to|Hereditary pancreatitis|Inborn genetic diseases|Finnish congenital nephrotic syndrome|Tropical pancreatitis
- rs104893938Pathogenicsingle nucleotide variantHereditary pancreatitis
- rs104893939Pathogenicsingle nucleotide variantHereditary pancreatitis
- rs193922659PathogenicDeletionHereditary pancreatitis
- rs515726206Not classifiedsingle nucleotide variantHereditary pancreatitis
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.