DisGeNET - a database of gene-disease associations

Hereditary pancreatitis, C0238339

Variant: rs189270875 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs189270875

PRSS1

0.700

CausalMutation

CLINVAR

The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.

24780743

2015

dbSNP:

rs189270875

PRSS1

0.700

CausalMutation

CLINVAR

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

23455445

2014

dbSNP:

rs189270875

PRSS1

0.700

CausalMutation

CLINVAR

Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient.

24413785

2014

dbSNP:

rs189270875

PRSS1

0.700

CausalMutation

CLINVAR

PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan.

23686146

2014

dbSNP:

rs189270875

PRSS1

0.700

CausalMutation

CLINVAR

High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis.

21415673

2011

dbSNP:

rs189270875

PRSS1

0.700

CausalMutation

CLINVAR

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

17003641

2006