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rs17107315

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 4 risk of pancreatitis
(C;T) 3 risk of pancreatitis
(T;T) 0 normal
ReferenceGRCh38 38.1/142
Chromosome5
Position147828115
GeneSPINK1
is asnp
is mentioned by
dbSNPrs17107315
ebirs17107315
HLIrs17107315
Exacrs17107315
Varsomers17107315
Maprs17107315
PheGenIrs17107315
hapmaprs17107315
1000 genomesrs17107315
hgdprs17107315
ensemblrs17107315
gopubmedrs17107315
geneviewrs17107315
scholarrs17107315
googlers17107315
pharmgkbrs17107315
gwascentralrs17107315
openSNPrs17107315
23andMers17107315
23andMe allrs17107315
SNP Nexus

SNPshotrs17107315
SNPdbers17107315
MSV3drs17107315
GWAS Ctlgrs17107315
GMAF0.005969
Max Magnitude4
? (C;C) (C;T) (T;T) 28
OMIM167790
DescPANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
Variant0001
Relatedalso




ClinVar
Risk rs17107315(G;G)
Alt rs17107315(G;G)
Reference rs17107315(A;A)
Significance Other
Disease Pancreatitis Tropical calcific pancreatitis Fibrocalculous pancreatic diabetes Hereditary pancreatitis
Variation info
Gene SPINK1
CLNDBN Pancreatitis, chronic, susceptibility to Tropical calcific pancreatitis Fibrocalculous pancreatic diabetes, susceptibility to Hereditary pancreatitis
Reversed 1
HGVS NC_000005.9:g.147207678T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014768.4, RCV000014769.25, RCV000014770.2, RCV000119030.3,



[PMID 17204] Characterization of longstanding specific unresponsiveness in adult recipients of strongly histoincompatible hemopoietic stem cells.


[PMID 10691414OA-icon.png] Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.


[PMID 10835640] Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.


[PMID 16885867] Estimation of the prevalence and incidence of chronic pancreatitis and its complications.


[PMID 18286680OA-icon.png] Role of genetic disorders in acute recurrent pancreatitis.


[PMID 19453252] Chronic pancreatitis: genetics and pathogenesis.