rs662138

This is a intron variant variant in the SLC22A1 gene.

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GWAS Catalog Trait Associations (35)

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

isobutyrylcarnitine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele C

OR 0.40

p 2.0e-211

N 14,296

Large GWAS

European

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele C

OR 0.44

p 4.0e-119

N 8,809

Large GWAS

European

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele C

OR 0.08

p 5.0e-49

N 7,812

Large GWAS

European

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele C

OR 0.28

p 1.0e-27

N 4,911

Large GWAS

European

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 G

OR 0.05

p 4.0e-60

N 355,197

Major Consortium StudyLarge GWAS

multi-ancestry

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 G

OR 0.05

p 7.0e-55

N 354,097

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 G

OR 0.05

p 3.0e-53

N 355,858

Major Consortium StudyLarge GWAS

multi-ancestry

metabolite measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele C

OR 0.19

p 1.0e-49

N 14,296

Large GWAS

European

Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)

Allele C

OR 0.15

p 7.0e-25

N 2,820

Large GWAS

European

butyrylcarnitine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele C

OR 0.18

p 3.0e-42

N 14,296

Large GWAS

European

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele C

OR 0.19

p 2.0e-23

N 8,809

Large GWAS

European

propionylcarnitine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele C

OR 0.17

p 3.0e-39

N 14,296

Large GWAS

European

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele C

OR 0.16

p 1.0e-19

N 8,809

Large GWAS

European

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele C

OR 0.02

p 3.0e-14

N 7,813

Large GWAS

European

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 12.68

p 8.0e-37

N 1,508,659

Large GWAS

multi-ancestry

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele G

OR 0.03

p 2.0e-22

N 355,731

Major Consortium StudyLarge GWAS

multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele G

OR 0.01

p 7.0e-36

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

X-11261 measurement

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele G

OR 0.23

p 3.0e-32

N 8,809

Large GWAS

European

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele G

OR 0.06

p 9.0e-25

N 7,771

Large GWAS

European

About SLC22A1

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]

rs662138

GWAS Catalog Trait Associations (35)

isobutyrylcarnitine measurement

low density lipoprotein cholesterol measurement

apolipoprotein B measurement

total cholesterol measurement

metabolite measurement

butyrylcarnitine measurement

propionylcarnitine measurement

glomerular filtration rate

body height

X-11261 measurement

About SLC22A1

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