rs972354
This variant is located in the BEST1 gene.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
polyunsaturated fatty acids to monounsaturated fatty acids ratio
level of phosphatidylcholine
polyunsaturated fatty acid measurement
lysophosphatidylcholine 20:4 measurement
high density lipoprotein cholesterol measurement
polyunsaturated fatty acids to total fatty acids percentage
lysophosphatidylethanolamine 20:4 measurement
saturated fatty acids measurement
fatty acid amount
linoleic acid measurement
▶ClinVar annotation
Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis Pigmentosa, Recessive; not provided
View on ClinVar →About BEST1
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
View all BEST1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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