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rs397507441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TGACAAGAT) 4.4 Hereditary pancreatitis
Make rs397507441(TGACAAGAT;TGACAAGAT)
ReferenceGRCh38 38.1/141
Chromosome7
Position142750585
GenePRSS1
is asnp
is mentioned by
dbSNPrs397507441
dbSNP (classic)rs397507441
ClinGenrs397507441
ebirs397507441
HLIrs397507441
Exacrs397507441
Gnomadrs397507441
Varsomers397507441
LitVarrs397507441
Maprs397507441
PheGenIrs397507441
Biobankrs397507441
1000 genomesrs397507441
hgdprs397507441
ensemblrs397507441
geneviewrs397507441
scholarrs397507441
googlers397507441
pharmgkbrs397507441
gwascentralrs397507441
openSNPrs397507441
23andMers397507441
SNPshotrs397507441
SNPdbers397507441
MSV3drs397507441
GWAS Ctlgrs397507441
Max Magnitude4.4

aka c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle)

ClinVar
Risk rs397507441(TGACAAGAT;TGACAAGAT)
Alt rs397507441(TGACAAGAT;TGACAAGAT)
Reference Rs397507441(-;-)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142458428_142458436dupTGACAAGAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031921.1,