rs13116304 Rat Genome Database

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Variant: rs13116304 -  Homo sapiens

RGD ID: 8591122
RS ID: rs13116304
ClinVar ID: CV131771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CC2D2A  LOC124900671  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 15,569,146
GRCh38 4 15,567,523
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080522.2:c.3288+41A>C
NG_013035.1:g.102658A>C
NC_000004.12:g.15567523A>C
NC_000004.11:g.15569146A>C
More... 		07/14/2021 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View

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
GCST90243985 Smoking initiation 3,382,012 European ancestry, East Asian ancestry, Hispanic or Latin American, African ancestry individuals C 0.705 2E-13 12.698970004336019 NR [NR] (imputed) 0.00621 smoking initiation (EFO:0005670)
 PMID:36477530

Variant Details
Variant Transcripts
Gene Symbol:CC2D2A
Accession:XM_011513874
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_020785
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_011513872
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378615
Location:INTRON

Gene Symbol:CC2D2A
Accession:XM_047416010
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001378617
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001080522
Location:INTRON

Gene Symbol:CC2D2A
Accession:NM_001164720
Location:INTRON

Gene Symbol:LOC124900671
Accession:XR_007058061
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114175 CLINVAR
  RCV001554588 CLINVAR
  RCV001554589 CLINVAR
  RCV001650940 CLINVAR
dbSNP (RS) rs13116304 CLINVAR
GWAS Catalog GCST90243985 GWAS Catalog
MedGen C2676788 CLINVAR
  C2676790 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CC2D2A CLINVAR
OMIM 612013 CLINVAR
  612284 CLINVAR
  612285 CLINVAR