Dataset

NG00051 - SORL1 coding variants and risk for AD

Overview

Study to evaluate the presence of non-synonymous variants in SORL1 gene that may increase the risk for AD in three different samples of the European American population: sporadic early-onset Alzheimer's disease (sEOAD), sporadic late-onset Alzheimer’s disease (sLOAD) and familial LOAD (fLOAD)

NIAGADS staff is collecting Genomic Data Sharing (GDS) documentation for this dataset. Until we know how the study's cohort's Institutional Review Board wants the data to be shared, the data cannot be distributed. Information about GDS is available at https://osp.od.nih.gov/scientific-sharing/genomic-data-sharing/. If you have questions about GDS, you may contact Dr. Marilyn Miller, millerm@nia.nih.gov. In the meantime, you may still submit a request for this dataset, but it will not be distributed until GDS documentation is complete.

Molecular Data Type

Disease

AD
Submission date: 
10/19/2016
Samples
  sEOAD sLOAD fLOAD Total
Control 169 266 324 759
Case 217 134 866 1217
Total 386 400 1190 1976

 

Phenotypes
Markers
  missense SNVs damagind SNVs Total
sEOAD 4 0 4
sLOAD 17 6 23
fLOAD 45 17 62
Total 66 23 89

 

Platform