Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
0.870 1.000 5 2000 2018
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS
0.750 1.000 2 2002 2009