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rs111033567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4.4 Hereditary pancreatitis
Make rs111033567(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position142750582
GenePRSS1
is asnp
is mentioned by
dbSNPrs111033567
dbSNP (classic)rs111033567
ClinGenrs111033567
ebirs111033567
HLIrs111033567
Exacrs111033567
Gnomadrs111033567
Varsomers111033567
LitVarrs111033567
Maprs111033567
PheGenIrs111033567
Biobankrs111033567
1000 genomesrs111033567
hgdprs111033567
ensemblrs111033567
geneviewrs111033567
scholarrs111033567
googlers111033567
pharmgkbrs111033567
gwascentralrs111033567
openSNPrs111033567
23andMers111033567
SNPshotrs111033567
SNPdbers111033567
MSV3drs111033567
GWAS Ctlgrs111033567
Max Magnitude4.4

aka c.68A>G, p.Lys23Arg and K23R

23andMe name: i5005348

OMIM276000
Desc
Variant0003
Relatedalso
ClinVar
Risk rs111033567(G;G)
Alt rs111033567(G;G)
Reference Rs111033567(A;A)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene PRSS1
CLNDBN Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.142458433A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012653.14,