rs7188539

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GWAS Catalog Trait Associations (2)

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

blood sodium bicarbonate amount

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.02
p 2.0e-12
N 585,125
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 1.0e-8
N 135,808
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group
AssociationN=366Marcotte EL et al.(2017)· Genes, Chromosomes and Cancer

Case-parent triad study of 366 pediatric and adolescent germ cell tumor (GCT) cases examining 26 SNPs from adult testicular GCT GWAS. Three variants reached multiple testing-corrected significance: SPRY4 rs4624820 (OR=0.70, protective), BAK1 rs210138 (OR=1.70, particularly strong for testicular tumors OR=3.31), and GAB2 rs948662 (OR=1.56). Maternal effects observed for KITLG rs4474514 (OR=1.66) and rs7221274 near TEX14/RAD51C/PPM1E (OR=1.63).

Traits studied:Adolescent germ cell tumorsExtragonadal germ cell tumorsGerm cell tumorsGerminomasIntracranial germ cell tumorsOvarian germ cell tumorsPediatric germ cell tumorsTeratomasTesticular germ cell tumorsYolk sac tumors
PubMedDOIMetascience Observatory

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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