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rs397507442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4.4 Hereditary pancreatitis
Make rs397507442(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position142750579
GenePRSS1
is asnp
is mentioned by
dbSNPrs397507442
dbSNP (classic)rs397507442
ClinGenrs397507442
ebirs397507442
HLIrs397507442
Exacrs397507442
Gnomadrs397507442
Varsomers397507442
LitVarrs397507442
Maprs397507442
PheGenIrs397507442
Biobankrs397507442
1000 genomesrs397507442
hgdprs397507442
ensemblrs397507442
geneviewrs397507442
scholarrs397507442
googlers397507442
pharmgkbrs397507442
gwascentralrs397507442
openSNPrs397507442
23andMers397507442
SNPshotrs397507442
SNPdbers397507442
MSV3drs397507442
GWAS Ctlgrs397507442
Max Magnitude4.4

c.65A>G, p.Asp22Gly and D22G

ClinVar
Risk rs397507442(G;G)
Alt rs397507442(G;G)
Reference Rs397507442(A;A)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142458430A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000031922.1,