rs202003805

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4.4	Hereditary pancreatitis possible; possible miscall though

Make rs202003805(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

142750561

Gene

PRSS1

is a	snp
is	mentioned by
dbSNP	rs202003805
dbSNP (classic)	rs202003805
ClinGen	rs202003805
ebi	rs202003805
HLI	rs202003805
Exac	rs202003805
Gnomad	rs202003805
Varsome	rs202003805
LitVar	rs202003805
Map	rs202003805
PheGenI	rs202003805
Biobank	rs202003805
1000 genomes	rs202003805
hgdp	rs202003805
ensembl	rs202003805
geneview	rs202003805
scholar	rs202003805
google	rs202003805
pharmgkb	rs202003805
gwascentral	rs202003805
openSNP	rs202003805
23andMe	rs202003805
SNPshot	rs202003805
SNPdbe	rs202003805
MSV3d	rs202003805
GWAS Ctlg	rs202003805

Max Magnitude

4.4

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	RCV000031920.4,