rs104893939, SPINK1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.925 0.040 5 147831537 missense variant A/C;G snv 0.800 1.000 5 2000 2010
Autosomal Dominant Hereditary Pancreatitis
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
6 0.925 0.040 5 147831537 missense variant A/C;G snv 0.010 1.000 1 2007 2007