rs144422014

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	2	Probably benign, but possibly associated with hereditary pancreatitis
(G;G)	2	Probably benign, but possibly associated with hereditary pancreatitis

Reference

GRCh38 38.1/141

Chromosome

7

Position

142750675

Gene

PRSS1

is a	snp
is	mentioned by
dbSNP	rs144422014
dbSNP (classic)	rs144422014
ClinGen	rs144422014
ebi	rs144422014
HLI	rs144422014
Exac	rs144422014
Gnomad	rs144422014
Varsome	rs144422014
LitVar	rs144422014
Map	rs144422014
PheGenI	rs144422014
Biobank	rs144422014
1000 genomes	rs144422014
hgdp	rs144422014
ensembl	rs144422014
geneview	rs144422014
scholar	rs144422014
google	rs144422014
pharmgkb	rs144422014
gwascentral	rs144422014
openSNP	rs144422014
23andMe	rs144422014
SNPshot	rs144422014
SNPdbe	rs144422014
MSV3d	rs144422014
GWAS Ctlg	rs144422014

Max Magnitude

2

aka c.161A>G, p.Asn54Ser and N54S

Information about this variant is somewhat complex. The minor allele, rs144422014(G), is classified as pathogenic for hereditary pancreatitis in ClinVar, a condition associated with dominant or de novo mutations. However, the frequency of the minor allele is relatively high (~3% in ExAC), and, OMIM quotes a paper that concludes this N54S variant is itself functional, but due to gene conversion with a pseudogene it may be seen together with an actual pathogenic mutation nearby, rs111033566. [PMID 15776435 ]

ClinVar
Risk	Rs144422014(G;G)
Alt	Rs144422014(G;G)
Reference	Rs144422014(A;A)
Significance	Pathogenic
Disease	Hereditary pancreatitis
Variation	info
Gene	PRSS1
CLNDBN	Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.142458526A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012656.22,