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rs397507439

From SNPedia

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


Make rs397507439(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position142750630
GenePRSS1
is asnp
is mentioned by
dbSNPrs397507439
dbSNP (classic)rs397507439
ClinGenrs397507439
ebirs397507439
HLIrs397507439
Exacrs397507439
Gnomadrs397507439
Varsomers397507439
LitVarrs397507439
Maprs397507439
PheGenIrs397507439
Biobankrs397507439
1000 genomesrs397507439
hgdprs397507439
ensemblrs397507439
geneviewrs397507439
scholarrs397507439
googlers397507439
pharmgkbrs397507439
gwascentralrs397507439
openSNPrs397507439
23andMers397507439
SNPshotrs397507439
SNPdbers397507439
MSV3drs397507439
GWAS Ctlgrs397507439
Max Magnitude4.4

aka c.116T>C, p.Val39Ala and V39A

ClinVar
Risk rs397507439(C;C)
Alt rs397507439(C;C)
Reference Rs397507439(T;T)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142458481T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000031918.3,