rs3812049

This variant is located in the SLC12A2 gene.

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GWAS Catalog Trait Associations (5)

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

Red cell distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.12

p —

N 408,112

Large GWAS

European

Xiang R et al. “Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.” Nature Communications 16(1):4260 (2025)

Allele G

OR 0.03

p 1.0e-35

N 404,440

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.14

p 5.0e-274

N 171,529

Large GWAS

European

serum albumin amount

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.02

p 7.0e-21

N 450,015

Large GWAS

multi-ancestry

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)

Allele G

OR 0.08

p 4.0e-9

N 148,248

Major Consortium StudyLarge GWAS

European

total cholesterol measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele C

OR 0.01

p 3.0e-14

N 928,679

Large GWAS

multi-ancestry

body fat distribution

Rask-Andersen M et al. “Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.” Nature Communications 10(1):339 (2019)

Allele C

OR —

β 0.035

p 1.0e-22

N 116,138

Large GWAS

European

lymphocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR —

p 4.0e-32

N 643,370

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.03

p 3.0e-22

N 445,573

Large GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.03

p 6.0e-28

N 408,112

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 4.0e-21

N 394,642

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.03

p 1.0e-9

N 171,643

Large GWAS

European

About SLC12A2

The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

rs3812049

GWAS Catalog Trait Associations (5)

Red cell distribution width

serum albumin amount

total cholesterol measurement

body fat distribution

lymphocyte count

About SLC12A2

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