rs148954387, SPINK1

N. diseases: 3
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 0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04 0.700 1.000 7 2000 2015
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04 0.700 0
TROPICAL CALCIFIC PANCREATITIS
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
13 0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04 0.700 0