ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Disease: Hereditary pancreatitis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4792311
rs4792311 		0.776 0.160 17 13011692 missense variant G/A;C snv 0.27
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.020 1.000 2 2001 2001
dbSNP: rs5030739
rs5030739 		0.776 0.160 17 12996585 missense variant C/T snv 3.5E-02 2.9E-02
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.020 1.000 2 2001 2001