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Variant (rsID / SNP)

rs17107315

SPINK1

rs17107315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK1. Location: chromosome 5, position 147,207,678. Clinical significance in the table: Conflicting interpretations of pathogenicity; association; risk factor.

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Reference-table entries

SPINK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; association; risk factor
Variant type
single nucleotide variant
Chromosome / position
5:147207678
Cytoband
5q32
HGVS
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
Allele change
Missense_N34S

Associated conditions / phenotypes

Pancreatitis, chronic, susceptibility to|Hereditary pancreatitis|Inborn genetic diseases|Finnish congenital nephrotic syndrome|Tropical pancreatitis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.