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: 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: rs754230211
rs754230211 		1.000 21 46219498 missense variant T/A;C snv 4.2E-06; 3.3E-05
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		0.800 1.000 1 2018 2018
dbSNP: rs1249530918
rs1249530918 		1.000 21 46210710 missense variant A/G snv 4.0E-06
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		0.800 0
dbSNP: rs1260995701
rs1260995701 		1.000 21 46216429 missense variant A/G snv 1.2E-05
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		0.800 0
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: rs1569036540
rs1569036540 		1.000 21 46222635 stop gained C/T snv
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		0.700 0
dbSNP: rs1569039353
rs1569039353 		1.000 21 46227567 missense variant G/C snv
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		0.700 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
dbSNP: rs2254524
rs2254524 		1.000 0.040 21 46194555 missense variant A/C;T snv 0.66; 1.6E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2016 2019
dbSNP: rs2254524
rs2254524 		1.000 0.040 21 46194555 missense variant A/C;T snv 0.66; 1.6E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs561449819
rs561449819 		0.925 0.200 21 46195731 missense variant C/G;T snv 4.0E-06; 1.4E-04
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs864622780
rs864622780 		0.925 0.200 21 46195752 missense variant A/G;T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015