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
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
dbSNP: rs749141857
rs749141857 		1.000 21 46213822 missense variant A/C;G snv 2.0E-05; 4.0E-06
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 0
dbSNP: rs764098604
rs764098604 		1.000 21 46194592 missense variant C/A;G snv 4.0E-06; 1.6E-05
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		0.700 0