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rs193922659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922659(-;-)
Make rs193922659(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position147831551
GeneSPINK1
is asnp
is mentioned by
dbSNPrs193922659
ebirs193922659
HLIrs193922659
Exacrs193922659
Varsomers193922659
Maprs193922659
PheGenIrs193922659
hapmaprs193922659
1000 genomesrs193922659
hgdprs193922659
ensemblrs193922659
gopubmedrs193922659
geneviewrs193922659
scholarrs193922659
googlers193922659
pharmgkbrs193922659
gwascentralrs193922659
openSNPrs193922659
23andMers193922659
23andMe allrs193922659
SNP Nexus

SNPshotrs193922659
SNPdbers193922659
MSV3drs193922659
GWAS Ctlgrs193922659
Max Magnitude0
ClinVar
Risk rs193922659(;)
Alt rs193922659(;)
Reference rs193922659(C;C)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene SPINK1
CLNDBN Hereditary pancreatitis
Reversed 1
HGVS NC_000005.9:g.147211114delG
CLNSRC ClinVar LabCorp
CLNACC RCV000030460.4,


[PMID 14722925] Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.


[PMID 16823394] Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.


[PMID 16981266OA-icon.png] Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.


[PMID 17274009OA-icon.png] Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.


[PMID 17568390] Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.