Annotation Detail

Information
Associated Genes
SPINK1
Associated Variants
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000510027.2, ENST00000296695.10 )
SPINK1 p.Asn34Ser (p.N34S) ( ENST00000296695.10, ENST00000510027.2 )
Associated Disease
Pancreatitis, Chronic
Source Database
DisGeNET
Description
Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States.
Pubmed
12822871
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.220099677972261
Year of publication
2003
Drugs