LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: HYPOTRICHOSIS 14 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754230211
rs754230211
Entrez Id: 4047
Gene Symbol: LSS
LSS
CUI: C4748930
Disease:
HYPOTRICHOSIS 14 		0.800 GeneticVariation UNIPROT Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. 30401459 2018
dbSNP: rs1249530918
rs1249530918
Entrez Id: 4047
Gene Symbol: LSS
LSS
CUI: C4748930
Disease:
HYPOTRICHOSIS 14 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1249530918
rs1249530918
Entrez Id: 4047
Gene Symbol: LSS
LSS
CUI: C4748930
Disease:
HYPOTRICHOSIS 14 		0.800 GeneticVariation UNIPROT
dbSNP: rs1260995701
rs1260995701
Entrez Id: 4047
Gene Symbol: LSS
LSS
CUI: C4748930
Disease:
HYPOTRICHOSIS 14 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1260995701
rs1260995701
Entrez Id: 4047
Gene Symbol: LSS
LSS
CUI: C4748930
Disease:
HYPOTRICHOSIS 14 		0.800 GeneticVariation UNIPROT
dbSNP: rs754230211
rs754230211
Entrez Id: 4047
Gene Symbol: LSS
LSS
CUI: C4748930
Disease:
HYPOTRICHOSIS 14 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1569036540
rs1569036540
Entrez Id: 4047
Gene Symbol: LSS
LSS
CUI: C4748930
Disease:
HYPOTRICHOSIS 14 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1569039353
rs1569039353
Entrez Id: 4047;114044
Gene Symbol: LSS;MCM3AP-AS1
LSS;MCM3AP-AS1
CUI: C4748930
Disease:
HYPOTRICHOSIS 14 		C 0.700 CausalMutation CLINVAR