rs2292864 Rat Genome Database

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Variant: rs2292864 -  Homo sapiens

RGD ID: 150506003
RS ID: rs2292864
ClinVar ID: CV1226238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 45,367,681
GRCh38 17 47,290,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000212.3:c.1125+41C>T
LRG_481:g.41474C>T
NG_008332.2:g.41474C>T
NC_000017.11:g.47290315C>T
More... 		06/19/2021 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
GCST004647 Left atrial antero-posterior diameter 30,201 European ancestry individuals T 0.0972 5E-7 6.301029995663981 Affymetrix, Illumina [at least 283291] (imputed) 0.0323 left ventricular structural measurement (EFO:0008205)
 PMID:28394258

Variant Details
Variant Transcripts
Gene Symbol:ITGB3
Accession:NM_000212
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001635606 CLINVAR
dbSNP (RS) rs2292864 CLINVAR
GWAS Catalog GCST004647 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene ITGB3 CLINVAR
OMIM 173470 CLINVAR