rs4812818 Rat Genome Database

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Variant: rs4812818 -  Homo sapiens

RGD ID: 150446758
RS ID: rs4812818
ClinVar ID: CV1250712
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FITM2  LOC127893392  LOC127893393  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 42,939,426
GRCh38 20 44,310,786
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080472.4:c.173+190A>C
NC_000020.11:g.44310786T>G
NC_000020.10:g.42939426T>G
 11/11/2018 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
GCST90002397 Mean spheric corpuscular volume 408,112 British individuals G 0.801995 6E-17 16.221848749616356 Affymetrix [93095623] (imputed) 0.0240708 mean corpuscular volume (EFO:0004526)
 PMID:32888494
GCST90105038 Educational attainment 3,037,499 European ancestry individuals T 0.1947 2E-8 7.698970004336019 Illumina [10675380] (imputed) 0.00739477 educational attainment (EFO:0011015)
 PMID:35361970

Variant Details
Variant Transcripts
Gene Symbol:FITM2
Accession:NM_001080472
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001667217 CLINVAR
dbSNP (RS) rs4812818 CLINVAR
GWAS Catalog GCST90002397 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene FITM2 CLINVAR
OMIM 612029 CLINVAR