rs7005606

This is a upstream gene variant variant in the NRG1 gene.

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GWAS Catalog Trait Associations (2)

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

Hirschsprung disease

Tang CS et al. “Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.” Human Molecular Genetics 25(23):5265-5275 (2016)

Allele G

OR 2.12

p 1.0e-11

N 1,698

Meta-analysis

multi-ancestry

urate measurement

Tin A et al. “Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.” Nature Genetics 51(10):1459-1474 (2019)

Allele T

OR 0.02

p 1.0e-10

N 457,690

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Variation at NRG1 genotype related to modulation of small-world properties of the functional cortical network

AssociationN=144Alba Lubeiro et al.(2017)· European Archives of Psychiatry and Clinical Neuroscience

An imaging genetics study of 144 healthy Caucasian controls examining NRG1 genetic variation and brain network small-worldness properties measured via EEG during an auditory odd-ball task. Three NRG1 SNPs (rs6468119, rs6994992, rs7005606) were significantly associated with small-worldness modulation in different frequency bands (alpha, beta1, theta), with risk allele carriers showing larger modulation than non-carriers (p-values ranging from 0.019–0.048).

Traits studied:Bipolar disorderBrain network small-worldness (functional connectivity)Psychosis riskSchizophrenia

PubMed DOI Metascience Observatory

About NRG1

The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]