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rs111033565

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4.4 Hereditary pancreatitis
(G;G) 0 common in clinvar


Make rs111033565(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position142751938
GenePRSS1
is asnp
is mentioned by
dbSNPrs111033565
dbSNP (classic)rs111033565
ClinGenrs111033565
ebirs111033565
HLIrs111033565
Exacrs111033565
Gnomadrs111033565
Varsomers111033565
LitVarrs111033565
Maprs111033565
PheGenIrs111033565
Biobankrs111033565
1000 genomesrs111033565
hgdprs111033565
ensemblrs111033565
geneviewrs111033565
scholarrs111033565
googlers111033565
pharmgkbrs111033565
gwascentralrs111033565
openSNPrs111033565
23andMers111033565
SNPshotrs111033565
SNPdbers111033565
MSV3drs111033565
GWAS Ctlgrs111033565
Merged fromRs77914057
Max Magnitude4.4

aka c.365G>A, p.Arg122His, and R122H ; 23andMe name: i5005351

The rs111033565(A) mutant allele is reported to be the most common mutation found in early-onset (pediatric) acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). 10.1016/j.jpeds.2017.03.063

OMIM276000
Desc
Variant0001
Relatedalso
ClinVar
Risk rs111033565(A;A)
Alt rs111033565(A;A)
Reference Rs111033565(G;G)
Significance Pathogenic
Disease Hereditary pancreatitis not provided
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis not provided
Reversed 0
HGVS NC_000007.13:g.142459789G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012651.26, RCV000487005.1,


[PMID 1720414] Monoclonal antibodies which identify carbohydrate-defined MHC class I epitopes.

[PMID 8841182] Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

[PMID 9557894] Heterogeneity in hereditary 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 20001681] Prevalence of pancreatic diabetes in patients carrying mutations or polymorphisms of the PRSS1 gene in the Han population.