SNP rs2075650

GAGATGAGAGTTGGTGTGGGGTTGG[G/A]GTGGAGTGTGACAGCGTTTCTCTTC

Genomic Context

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Variant Effect Impact (snpEff)

  • High
  • Moderate
  • Low
  • Modifier
  • Not Reported
  • Reference Allele: A
  • Minor Allele/Frequency: G/0.1194
  • Variant Class: single nucleotide variant
  • Closest Gene: TOMM40

Genome-wide significance

NIAGADS: Alzheimer's Disease

NIAGADS AD GWAS summary statistics datasets in which SNP rs2075650 has a genome-wide significance supported by a p-value ≤ 5 x 10-8.

For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

See methods for more information.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

To view functional genomics annotations on the genome browser, first select tracks in the table below and then use the provided button to load the tracks on the browser.

p-Value Allele Track Accession Mapped From Get SNPs
1e-464 A
IGAP 2013: Stage 1
summary statistics for IGAP (2013): stage 1
NG00036 N/A
6.17e-184 A
ADGC 2011: Stage 1
summary statistics for ADGC (2011): stage 1, unadjusted
NG00027 N/A
2.82e-67 A
ADGC Age of Onset LOAD
GWAS summary statistics for age of onset in ADGC LOAD GWAS datasets, after adjustment for sex, APOE ε4 number, and population stratification.
NG00048 chr19:45395619
4.57e-49 A
Neuropathologic features of AD and related dementias (case/control)
GWAS summary statistics from a comparative study of neuropathological features of Alzheimer's disease and related dementias: general case/control analysis comparing individuals with dementia and AD neuropathologies (cases) to those without clinical dementia and none or minimal AD neuropathologic changes (controls); includes both primary (relaxed documentation) and conservative (strict documentation) datasets
NG00041 N/A
2.04e-05 N/A
Multi-Ethnic Exome Array: AD
GWAS summary statistics from a multi-ethnic exome array study of AD, FTD, and PSP
NG00040 exm-rs2075650

NIAGADS: Related Neuropathologies

NIAGADS non-AD (related neuropathology) GWAS summary statistics datasets in which SNP rs2075650 has a genome-wide significance supported by a p-value ≤ 5 x 10-8.

For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

See methods for more information.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

To view functional genomics annotations on the genome browser, first select tracks in the table below and then use the provided button to load the tracks on the browser.

p-Value Allele Track Accession Mapped From Get SNPs
5.13e-49 A
Neuritic plaques (presence vs. absence); relaxed
GWAS summary statistics from a comparative study of neuropathological features of Alzheimer's disease and related dementias: NPs (presence versus absence), inclusive primary dataset allowing some incomplete documentation of pathological features
NG00041 N/A
2.19e-39 G
CSF: Aβ₄₂
GWAS summary statistics for CSF beta-amyloid 42 (AΒ42) levels, after adjustment for age, sex, and population stratification.
NG00049 N/A
6.17e-37 A
Neurofibrillary tangles (ranked by Braak stages)
GWAS summary statistics from a comparative study of neuropathological features of Alzheimer's disease and related dementias: NFTs (Braak stages)
NG00041 N/A
7.94e-37 A
Neuritic plaques (ranked by CERAD score)
GWAS summary statistics from a comparative study of neuropathological features of Alzheimer's disease and related dementias: NPs (CERAD score)
NG00041 N/A
6.61e-36 A
Neurofibrillary tangles (ranked by Braak groups)
GWAS summary statistics from a comparative study of neuropathological features of Alzheimer's disease and related dementias: NFTs (Braak groups)
NG00041 N/A
1.62e-30 A
Neuritic plaques (presence vs. absence); conservative
GWAS summary statistics from a comparative study of neuropathological features of Alzheimer's disease and related dementias: NPs (presence versus absence) restricted to cases and controls with complete documentation
NG00041 N/A
2.75e-22 A
Neuritic plaques (presence vs. absence)
GWAS summary statistics from a comparative study of neuropathological features of Alzheimer's disease and related dementias: NPs (presence vs. absence)
NG00041 N/A
4.27e-16 G
CSF: tau
GWAS summary statistics for CSF tau levels, after adjustment for age, sex, and population stratification.
NG00049 N/A
5.89e-16 G
CSF: ptau
GWAS summary statistics for CSF tau phosphorylated at threonine 181 (ptau) levels, after adjustment for age, sex, and population stratification.
NG00049 N/A
2.69e-14 A
Cerebral amyloid angiopathy (presence vs. absence)
GWAS summary statistics from a comparative study of neuropathological features of Alzheimer's disease and related dementias: CAA (presence vs. absence)
NG00041 N/A

NHGRI: Alzheimer's Disease

Alzheimer's Disease-related annotations for this SNP in the NHGRI GWAS Catalog.

Disease or Trait p-Value Allele Variant Type Citation
Alzheimer's disease 1.00e-295 G intron variant PMID: 20460622
Alzheimer's disease 2.00e-157 N/A intron variant PMID: 19734902
Alzheimer's disease 8.91e-116 G intron variant PMID: 24755620
Alzheimer's disease (late onset) 5.01e-36 G intron variant PMID: 20885792
Alzheimer's disease 2.00e-16 N/A intron variant PMID: 19734903
Alzheimer's disease 3.98e-13 N/A intron variant PMID: 24770881
Alzheimer's disease 3.02e-11 N/A intron variant PMID: 20061627
Alzheimer's disease biomarkers 1.00e-06 N/A intron variant PMID: 21123754

NHGRI: Other Traits

Non-AD related annotations for this SNP in the NHGRI GWAS Catalog.

Predicted Effects