rs2971677 Rat Genome Database

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Variant: rs2971677 -  Homo sapiens

RGD ID: 14731858
RS ID: rs2971677
ClinVar ID: CV662951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 44,192,260
GRCh38 7 44,152,661
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033508.3:c.206-236G>T
NM_000162.5:c.209-236G>T
NM_001354800.1:c.209-236G>T
NM_033507.3:c.212-236G>T
More... 		06/20/2018 intron variant benign Mason type diabetes; 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
GCST90019523 Triglyceride levels 342,233 European ancestry individuals, 6,014 African ancestry individuals, 7,330 South Asian ancestry individuals A NR 1E-12 12.0 Affymetrix [9000000] (imputed) 0.0233 triglyceride measurement (EFO:0004530)
 PMID:33462484

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27269892   PMID:29510678   PMID:30257192   PMID:31197960   PMID:32375122   PMID:33129248  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000836325 CLINVAR
  RCV002464335 CLINVAR
dbSNP (RS) rs2971677 CLINVAR
GWAS Catalog GCST90019523 GWAS Catalog
MedGen C0342276 CLINVAR
  C3661900 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR