SNP Detail For rs769449
1.Mapping Information
Human SNP ID rs769449
Human chromosome chr19
Human SNP position 44906745
Pig chromosome chr6
Pig SNP position 47270088
2.Annotation Information
PubMed ID18439548
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18439548
StudyLoci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women__s Genome Health Study.
Disease/TraitC-reactive protein
Initial sample6,345 European ancestry female individuals
Replication sampleNA
Region19q13.32
Chromosome idchr19
Chromosome position44906745
Reported geneAPOE
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers769449-?
SNPsrs769449
Merged0
SNP id current769449
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value9E-21
Pvalue mlog20.0457574905606
P value text
Or beta0.26
%95 Ci[NR] mg/dl decrease
PlatformIllumina [336108]
CNVN
Mapped traitC-reactive protein measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004458
Study accessionGCST000178
PubMed ID24468470
JournalNeurobiol Aging
Linkwww.ncbi.nlm.nih.gov/pubmed/24468470
StudyGenetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
Disease/TraitCognitive decline (age-related)
Initial sample5,765 European ancestry individuals, 890 African American individuals
Replication sampleNA
Region19q13.32
Chromosome idchr19
Chromosome position44906745
Reported geneAPOE
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers769449-?
SNPsrs769449
Merged0
SNP id current769449
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequency0.116
P value5E-19
Pvalue mlog18.3010299956639
P value text(EA)
Or beta0.0315
%95 Ci[0.02457-0.03835] unit decrease
PlatformIllumina [1530316]
CNVN
Mapped traitcognitive decline
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0001268
Study accessionGCST002320
PubMed ID23562540
JournalNeuron
Linkwww.ncbi.nlm.nih.gov/pubmed/23562540
StudyGWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer__s disease.
Disease/TraitAlzheimer__s disease biomarkers
Initial sample591 European ancestry cases, 687 European ancestry controls
Replication sample
Region19q13.32
Chromosome idchr19
Chromosome position44906745
Reported geneAPOE, TOMM40
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers769449-A
SNPsrs769449
Merged0
SNP id current769449
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text(tau)
Or beta0.082
%95 Ci[NR] unit increase
PlatformIllumina [5815690] (imputed)
CNVN
Mapped traitAlzheimers disease, t-tau measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000249, http://www.ebi.ac.uk/efo/EFO_0004760
Study accessionGCST001951
PubMed ID23562540
JournalNeuron
Linkwww.ncbi.nlm.nih.gov/pubmed/23562540
StudyGWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer__s disease.
Disease/TraitAlzheimer__s disease biomarkers
Initial sample591 European ancestry cases, 687 European ancestry controls
Replication sample
Region19q13.32
Chromosome idchr19
Chromosome position44906745
Reported geneAPOE, TOMM40
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers769449-A
SNPsrs769449
Merged0
SNP id current769449
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value0.000000000000000002
Pvalue mlog17.698970004336
P value text(ptau)
Or beta0.091
%95 Ci[NR] unit increase
PlatformIllumina [5815690] (imputed)
CNVN
Mapped traitp-tau measurement, Alzheimers disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004763, http://www.ebi.ac.uk/efo/EFO_0000249
Study accessionGCST001951
PubMed ID26421299
JournalBiomed Res Int
Linkwww.ncbi.nlm.nih.gov/pubmed/26421299
StudyGenetic Interactions Explain Variance in Cingulate Amyloid Burden: An AV-45 PET Genome-Wide Association and Interaction Study in the ADNI Cohort.
Disease/TraitCingulate cortical amyloid beta load
Initial sample215 European ancestry early mild cognitive impairment cases, 152 European ancestry late mild cognitive impairment cases, 45 European ancestry Alzheimer disease cases, 190 European ancestry controls
Replication sampleNA
Region19q13.32
Chromosome idchr19
Chromosome position44906745
Reported geneAPOE
Mapped geneAPOE
Upstream gene id
Downstream gene id
SNP gene ids348
Upstream gene distance
Downstream gene distance
SNP risk allelers769449-?
SNPsrs769449
Merged0
SNP id current769449
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value0.00000000000000005
Pvalue mlog16.3010299956639
P value text
Or beta
%95 Ci
PlatformIllumina [582718]
CNVN
Mapped traitamyloid-beta measurement, cingulate cortex measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005194, http://www.ebi.ac.uk/efo/EFO_0007738
Study accessionGCST003113