LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
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: rs864622780
rs864622780
0.925 0.200 21 46195752 missense variant A/G;T snv
CUI: C4225300
Disease: CATARACT 44
CATARACT 44
0.800 0