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rs397507440

From SNPedia

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


Make rs397507440(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position142751988
GenePRSS1
is asnp
is mentioned by
dbSNPrs397507440
dbSNP (classic)rs397507440
ClinGenrs397507440
ebirs397507440
HLIrs397507440
Exacrs397507440
Gnomadrs397507440
Varsomers397507440
LitVarrs397507440
Maprs397507440
PheGenIrs397507440
Biobankrs397507440
1000 genomesrs397507440
hgdprs397507440
ensemblrs397507440
geneviewrs397507440
scholarrs397507440
googlers397507440
pharmgkbrs397507440
gwascentralrs397507440
openSNPrs397507440
23andMers397507440
SNPshotrs397507440
SNPdbers397507440
MSV3drs397507440
GWAS Ctlgrs397507440
Max Magnitude4.4

aka c.415T>A, p.Cys139Ser and C139S

ClinVar
Risk rs397507440(A;A)
Alt rs397507440(A;A)
Reference Rs397507440(T;T)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142459839T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031919.1,