Overview

Pathogenicity: Alzheimer's Disease : Benign
Position: (GRCh38/hg38):Chr6:41159881 C>T
Position: (GRCh37/hg19):Chr6:41127619 C>T
dbSNP ID: rs139607688
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Silent
Codon Change: GAC to GAT
Reference Isoform: TREM2 Isoform 1 (230 aa)
Genomic Region: Exon 3

Findings

The D131D variant was not associated with AD in a case-control study of more than 33,000 Caucasian subjects (approximately 18,000 AD and 16,000 controls; odds ratio: 5.69, p = 0.39) (Sims et al., 2017).

Neuropathology

No data.

Biological Effect

No data.

Comments

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References

Paper Citations

1. 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Further Reading

No Available Further Reading