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rs111033568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4.4 Hereditary pancreatitis
Make rs111033568(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position142751937
GenePRSS1
is asnp
is mentioned by
dbSNPrs111033568
dbSNP (classic)rs111033568
ClinGenrs111033568
ebirs111033568
HLIrs111033568
Exacrs111033568
Gnomadrs111033568
Varsomers111033568
LitVarrs111033568
Maprs111033568
PheGenIrs111033568
Biobankrs111033568
1000 genomesrs111033568
hgdprs111033568
ensemblrs111033568
geneviewrs111033568
scholarrs111033568
googlers111033568
pharmgkbrs111033568
gwascentralrs111033568
openSNPrs111033568
23andMers111033568
SNPshotrs111033568
SNPdbers111033568
MSV3drs111033568
GWAS Ctlgrs111033568
Max Magnitude4.4

aka c.364C>T, p.Arg122Cys and R122C

23andMe name: i5005352

OMIM276000
Desc
Variant0009
Relatedalso
ClinVar
Risk rs111033568(T;T)
Alt rs111033568(T;T)
Reference Rs111033568(C;C)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142459788C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012658.23,