rs115030251

This variant is located in the MYBPHL gene.

GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

apolipoprotein B measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 3.0e-18
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 7.0e-15
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry

serum creatinine amount

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 4.0e-13
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 4.0e-13
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

glomerular filtration rate

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 1.0e-12
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

ClinVar annotation

Benign★★★
2 submitters1 publication
View on ClinVar →

About MYBPHL

This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

View all MYBPHL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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