LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: CATARACT 44 ×
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: rs561449819
rs561449819 		0.925 0.200 21 46195731 missense variant C/G;T snv 4.0E-06; 1.4E-04
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.800 1.000 1 2015 2015