rs7116797 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: rs7116797 -  Homo sapiens

RGD ID: 150485684
RS ID: rs7116797
ClinVar ID: CV1262146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA1  APOA1-AS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 116,707,338
GRCh38 11 116,836,622
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318021.1:c.-127-211T>C
NM_000039.3:c.201-211T>C
NM_001318017.2:c.201-211T>C
NM_001318018.2:c.201-211T>C
More... 		08/30/2018 intron variant benign none provided
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST007099 Systolic blood pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals A NR 6E-8 7.221848749616356 Affymetrix [at least 2696785] (imputed) 0.311 systolic blood pressure (EFO:0006335)
 PMID:27841878
GCST007094 Diastolic blood pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals A NR 2E-9 8.698970004336019 Affymetrix [at least 2696785] (imputed) 0.214 diastolic blood pressure (EFO:0006336)
 PMID:27841878
GCST90018969 Platelet count 350,474 European ancestry individuals, 148,623 East Asian ancestry individuals G NR 1E-25 25.0 Affymetrix, Illumina [20538505] (imputed) 0.0262 platelet count (EFO:0004309)
 PMID:34594039

Variant Details
Variant Transcripts
Gene Symbol:APOA1
Accession:NM_001318021
Location:5UTRS;INTRON

Gene Symbol:APOA1
Accession:NM_001318017
Location:INTRON

Gene Symbol:APOA1
Accession:NM_001318018
Location:INTRON

Gene Symbol:APOA1
Accession:NM_000039
Location:INTRON

Gene Symbol:APOA1
Accession:XM_047426866
Location:INTRON

Gene Symbol:APOA1-AS
Accession:NR_126362
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001686837 CLINVAR
dbSNP (RS) rs7116797 CLINVAR
GWAS Catalog GCST90018969 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene APOA1 CLINVAR
  APOA1-AS CLINVAR
OMIM 107680 CLINVAR
  620112 CLINVAR