MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
Disease: Cystic Fibrosis ×
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: rs5030737
rs5030737 		0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs11003125
rs11003125 		0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2018 2018