LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: HYPOTRICHOSIS 14 ×
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: 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: 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