rs55637647

This is a regulatory region variant variant in the ZFPM1 gene.

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GWAS Catalog Trait Associations (4)

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

nephrolithiasis

Cao X et al. “Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.” Nature Communications 16(1):3473 (2025)
Allele C
OR 0.94
p 4.0e-12
N 975,370
Large GWAS
multi-ancestry

total cholesterol measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele G
OR 0.02
p 7.0e-10
N 288,127
Large GWAS
East Asian

Testicular Germ Cell Tumor

Litchfield K et al. “Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.” Nature Genetics 49(7):1133-1140 (2017)
Allele G
OR 1.17
p 3.0e-9
N 24,573
Large GWAS
European
Litchfield K et al. “Identification of four new susceptibility loci for testicular germ cell tumour.” Nature Communications 6:8690 (2015)
Allele G
OR 1.17
p 3.0e-9
N 5,932
Large GWAS
European

urolithiasis

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 0.07
p 2.0e-8
N 667,072
Large GWAS
multi-ancestry
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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

About ZFPM1

Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and transcription corepressor activity. Involved in platelet formation; regulation of definitive erythrocyte differentiation; and regulation of gene expression. Part of transcription repressor complex. [provided by Alliance of Genome Resources, Jul 2025]

View all ZFPM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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