Variant (rsID / SNP)

rs515726206

rs515726206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK1. Location: chromosome 5, position 147,207,629. The table records no clinical significance for this variant.

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Reference-table entries

SPINK1Not classified

Variant type: single nucleotide variant
Chromosome / position: 5:147207629
Cytoband: 5q32
HGVS: NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu)
Allele change: Missense_D50E

Associated conditions / phenotypes

Hereditary 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.