rs8136485 Rat Genome Database

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Variant: rs8136485 -  Homo sapiens

RGD ID: 150483161
RS ID: rs8136485
ClinVar ID: CV1247574
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO7  LOC127895928  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 32,871,227
GRCh38 22 32,475,240
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012179.4:c.122+116C>T
NG_016001.2:g.5521C>T
NC_000022.11:g.32475240C>T
NC_000022.10:g.32871227C>T
 03/31/2019 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
GCST90002390 Mean corpuscular hemoglobin 408,112 British individuals T 0.213495 3E-41 40.52287874528034 Affymetrix [93095623] (imputed) 0.039561298 mean corpuscular hemoglobin (EFO:0004527)
 PMID:32888494
GCST90002392 Mean corpuscular volume 408,112 British individuals T 0.213464 1E-57 57.0 Affymetrix [93095623] (imputed) 0.0643853 mean corpuscular volume (EFO:0004526)
 PMID:32888494
GCST90002396 Mean reticulocyte volume 408,112 British individuals T 0.213617 3E-46 45.52287874528034 Affymetrix [93095623] (imputed) 0.042604595 mean reticulocyte volume (EFO:0010701)
 PMID:32888494
GCST90002397 Mean spheric corpuscular volume 408,112 British individuals T 0.213643 7E-47 46.15490195998574 Affymetrix [93095623] (imputed) 0.04243893 mean corpuscular volume (EFO:0004526)
 PMID:32888494

Variant Details
Variant Transcripts
Gene Symbol:FBXO7
Accession:NM_001257990
Location:INTRON

Gene Symbol:FBXO7
Accession:NM_001033024
Location:INTRON

Gene Symbol:FBXO7
Accession:NM_012179
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001673400 CLINVAR
dbSNP (RS) rs8136485 CLINVAR
GWAS Catalog GCST90002390 GWAS Catalog
  GCST90002392 GWAS Catalog
  GCST90002396 GWAS Catalog
  GCST90002397 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene FBXO7 CLINVAR
OMIM 605648 CLINVAR