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rs202003805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4.4 Hereditary pancreatitis possible; possible miscall though
Make rs202003805(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position142750561
GenePRSS1
is asnp
is mentioned by
dbSNPrs202003805
ClinGenrs202003805
ebirs202003805
HLIrs202003805
Exacrs202003805
Varsomers202003805
Maprs202003805
PheGenIrs202003805
hapmaprs202003805
1000 genomesrs202003805
hgdprs202003805
ensemblrs202003805
gopubmedrs202003805
geneviewrs202003805
scholarrs202003805
googlers202003805
pharmgkbrs202003805
gwascentralrs202003805
openSNPrs202003805
23andMers202003805
23andMe allrs202003805
SNP Nexus

SNPshotrs202003805
SNPdbers202003805
MSV3drs202003805
GWAS Ctlgrs202003805
Max Magnitude4.4

aka c.47C>T, p.Ala16Val and A16V

ClinVar
Risk rs202003805(T;T)
Alt rs202003805(T;T)
Reference Rs202003805(C;C)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142458412C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000031920.3,