rs212100

This variant is located in the SULT2A1 gene.

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GWAS Catalog Trait Associations (17)

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

5alpha-pregnan-diol disulfate 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 T
OR 0.63
p —
N 14,296
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.21
p 3.0e-10
N 4,110
Large GWAS
European

4-androsten-3alpha,17alpha-diol monosulfate (3) 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 T
OR 0.45
p 5.0e-240
N 14,296
Large GWAS
European

vitamin D level

Revez JA et al. “Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.” Nature Communications 11(1):1647 (2020)
Allele T
OR 0.07
p 1.0e-135
N 417,580
Large GWAS
European
Wang X et al. “Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D.” Plos Genetics 19(11):e1011033 (2023)
Allele T
OR 0.07
p 7.0e-126
N 409,654
Large GWAS
European

pregnenediol disulfate (C21H34O8S2) measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.55
p 2.0e-106
N 9,016
Large GWAS
multi-ancestry

androstenediol (3beta,17beta) disulfate (1) measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.45
p 6.0e-75
N 9,011
Large GWAS
multi-ancestry

X-21471 measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.33
p 1.0e-55
N 7,982
Large GWAS
European

androstenediol (3alpha, 17alpha) monosulfate (3) measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.40
p 5.0e-54
N 7,858
Large GWAS
multi-ancestry

21-hydroxypregnenolone disulfate 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 T
OR 0.21
p 6.0e-53
N 14,296
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.16
p 1.0e-15
N 8,132
Large GWAS
European

X-21441 measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.27
p 2.0e-37
N 8,030
Large GWAS
European

About SULT2A1

This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]

View all SULT2A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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