rs1800009
This variant is located in the BEST1;FTH1 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lysophosphatidylethanolamine measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.08
p 2.0e-14
N 13,814
Large GWAS
European
lysophosphatidylcholine measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.09
p 2.0e-13
N 13,814
Large GWAS
European
fatty acid amount
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.06
p 7.0e-12
N 13,814
Large GWAS
European
level of phosphatidylethanolamine
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.05
p 2.0e-11
N 13,814
Large GWAS
European
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele C
OR 0.14
p 4.0e-9
N 4,492
Large GWAS
European
level of phosphatidylinositol
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.07
p 4.0e-11
N 13,814
Large GWAS
European
phosphatidylcholine 38:5 measurement
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele C
OR 0.15
p 7.0e-11
N 4,492
Large GWAS
European
diacylglycerol 38:3 measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.05
p 3.0e-10
N 13,814
Large GWAS
European
level of phosphatidylcholine
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.10
p 4.0e-12
N 13,814
Large GWAS
European
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele C
OR 0.19
p 3.0e-16
N 4,492
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
12 submitters2 publicationsnot provided; not specified; Retinitis Pigmentosa, Recessive; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Iron Overload; Retinitis pigmentosa; Retinal dystrophy
View on ClinVar →This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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