rs6141766

This is a regulatory region variant variant in the C20orf203 gene.

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GWAS Catalog Trait Associations (3)

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

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.29
p 3.0e-18
N 1,028,980
Large GWAS
multi-ancestry

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.20
p 1.0e-16
N 1,028,980
Large GWAS
multi-ancestry

glomerular filtration rate

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele G
OR 6.50
p 8.0e-11
N 1,508,659
Large GWAS
multi-ancestry

About C20orf203

The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer's disease. [provided by RefSeq, Mar 2017]

View all C20orf203 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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