LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
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: rs118204082
rs118204082
0.851 0.120 8 19955863 missense variant C/G;T snv 1.5E-04
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
Digestive System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs371282890
rs371282890
0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs761886494
rs761886494
0.925 0.040 8 19955870 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs773891125
rs773891125
0.827 0.120 8 19955896 frameshift variant CT/- delins
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
Digestive System Diseases 0.010 1.000 1 2016 2016