rs11898505

This is a regulatory region variant variant in the SPTBN1 gene.

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GWAS Catalog Trait Associations (5)

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

alkaline phosphatase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 1.0e-18
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.01
p 5.0e-18
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

bone tissue density

Medina-Gomez C et al. “Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.” American Journal of Human Genetics 102(1):88-102 (2018)
Allele A
OR —
β 0.034
p 1.0e-8
N 66,945
Meta-analysisLarge GWAS
multi-ancestry
Rivadeneira F et al. “Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.” Nature Genetics 41(11):1199-206 (2009)
Allele A
OR 0.07
p 2.0e-8
N 19,195
Meta-analysisLarge GWAS
European

bone quantitative ultrasound measurement

Mullin BH et al. “Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.” Human Molecular Genetics 26(14):2791-2802 (2017)
Allele A
OR 0.09
p 2.0e-9
N 16,627
Meta-analysisLarge GWAS
European
Moayyeri A et al. “Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.” Human Molecular Genetics 23(11):3054-68 (2014)
Allele A
OR 0.06
p 4.0e-13
N 14,260
Meta-analysisMajor Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening
AssociationN=1,000Zhang YP et al.(2010)· Osteoporosis International

A replication study of 139 SNPs from three prior genome-wide association studies of bone mineral density in an independent sample of 1,000 unrelated US whites confirmed 38 SNPs (27% replication rate). Two SNPs achieved the most significant replication: rs3762397 in NR5A2 and rs3736228 in LRP5. Ten SNPs achieved combined p-values less than 3.6×10⁻⁴ across datasets, including rs3736228 (LRP5) with combined p=5.3×10⁻¹² for spinal BMD.

Traits studied:Bone mineral densityFemoral neck bone mineral density (FNBMD)Hip bone mineral density (HIPBMD)OsteoporosisSpinal bone mineral density (SPNBMD)
PubMedDOIMetascience Observatory

About SPTBN1

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all SPTBN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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