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rs111033564

From SNPedia

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


Make rs111033564(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position142751808
GenePRSS1
is asnp
is mentioned by
dbSNPrs111033564
ClinGenrs111033564
ebirs111033564
HLIrs111033564
Exacrs111033564
Varsomers111033564
Maprs111033564
PheGenIrs111033564
hapmaprs111033564
1000 genomesrs111033564
hgdprs111033564
ensemblrs111033564
gopubmedrs111033564
geneviewrs111033564
scholarrs111033564
googlers111033564
pharmgkbrs111033564
gwascentralrs111033564
openSNPrs111033564
23andMers111033564
23andMe allrs111033564
SNP Nexus

SNPshotrs111033564
SNPdbers111033564
MSV3drs111033564
GWAS Ctlgrs111033564
Merged fromRs28934902
Max Magnitude4.4
aka c.235G>A, p.Glu79Lys and E79K
OMIM276000
Desc
Variant0006
Relatedalso
ClinVar
Risk rs111033564(A;A)
Alt rs111033564(A;A)
Reference Rs111033564(G;G)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142459659G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012655.24,