rs12241008

This is a regulatory region variant variant in the VTI1A gene.

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GWAS Catalog Trait Associations (1)

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

colorectal cancer

Fernandez-Rozadilla C et al. “Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.” Nature Genetics 55(1):89-99 (2023)
Allele C
OR 0.10
p 1.0e-27
N 254,791
Large GWAS
multi-ancestry
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 0.12
p 2.0e-13
N 637,693
Large GWAS
multi-ancestry
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele C
OR 1.14
p 3.0e-11
N 202,807
Large GWAS
East Asian
Lu Y et al. “Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.” Gastroenterology 156(5):1455-1466 (2019)
Allele C
OR 1.11
p 2.0e-11
N 70,506
Large GWAS
East Asian
Tanikawa C et al. “GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.” Carcinogenesis 39(5):652-660 (2018)
Allele C
OR 1.14
p 3.0e-12
N 33,870
Large GWAS
East Asian
Wang H et al. “Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.” Nature Communications 5:4613 (2014)
Allele C
OR 1.13
p 1.0e-9
N 13,020
Large GWAS
multi-ancestry

About VTI1A

The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

View all VTI1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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