rs12568930

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (7)

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

hemoglobin measurement

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 C
OR 0.02
p 8.0e-22
N 563,946
Large GWAS
European

hematocrit

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 C
OR 0.02
p 9.0e-18
N 562,259
Large GWAS
European
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-11
N 928,679
Large GWAS
multi-ancestry

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele T
OR 1.09
p 1.0e-17
N 34,366
Large GWAS
European
Wu Y et al. “GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression.” Nature Communications 12(1):1146 (2021)
Allele T
OR 1.14
p 3.0e-8
N 456,327
Large GWAS
European

red blood cell density

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 C
OR 0.02
p 7.0e-11
N 545,203
Large GWAS
European

Keloid

Greene CA et al. “Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations.” Nature Communications 16(1):7770 (2025)
Allele T
OR 0.89
p 6.0e-9
N 1,600,846
Meta-analysisLarge GWAS
multi-ancestry

reticulocyte count

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 C
OR 0.03
p 7.0e-13
N 170,763
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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