rs78495697

This is a intron variant variant in the VAV3 gene.

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GWAS Catalog Trait Associations (4)

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

Thyroid stimulating hormone level

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele T
OR 0.11
p 7.0e-208
N 482,873
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 T
OR 0.13
p 3.0e-181
N 153,950
Large GWAS
East Asian

thyroid disease

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 C
OR 0.20
p 3.0e-49
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

hypothyroidism

Teumer A et al. “Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.” Nature Communications 9(1):4455 (2018)
Allele T
OR 0.32
p 3.0e-14
N 53,323
Large GWAS
European

About VAV3

This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

View all VAV3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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