Polymorphism: V465A


Location: 3q11.2

Factor:
- Symbol: GABRR3
- Name: gamma-aminobutyric acid (GABA) receptor, rho 3
- Entrez ID: 200959
- Ensembl ID: ENSG00000183185

Factors:
  • GABRR3 gamma-aminobutyric acid (GABA) receptor, rho 3 ( 200959 / ENSG00000183185 )


  • Description:

    ...a novel nsSNP in GABRR3 (p.V465A) was significantly depleted in centenarians... as compared to controls…

    Ethnicity: Ashkenazi Jewish
    Age of cases: Centenarians

    Statistics
    - Number of cases/controls: 390 vs 410 (initial)
    - p-value: 0.04 [0.04]
    - Significant: Nominally

    Study Design
    - Classifications: No Age Effect
    - Study type: Candidate Region/Gene
    - Technology: Agilent SureSelect in-solution target capture, Agilent eArray, BWA version 0.5.9, Picard, Genome Analysis Toolkit (GATK), iPLEX MassArray assays, MassARRAY Typer, SNP & Variation suite version 7.6.11

    Reference:
    23376243: Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing.

    Choice: Curate
    Created: July 1, 2013, 1:04 p.m.
    Updated: Aug. 8, 2014, 1:33 p.m.

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