LPO, lactoperoxidase, 4025

N. diseases: 32; N. variants: 12
Disease: BARDET-BIEDL SYNDROME 13 ×
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: rs386834051
rs386834051 		0.882 0.320 17 58219175 frameshift variant -/CCCGG delins 6.6E-06
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006