Source: CLINVAR

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: rs111033566
rs111033566
PRSS1
0.742 0.280 7 142750600 missense variant A/C;T snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.900 1.000 12 1996 2015