rs6218 Rat Genome Database

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Variant: rs6218 -  Homo sapiens

RGD ID: 11609006
RS ID: rs6218
ClinVar ID: CV322905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGF1  LINC02456  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 102,793,633
GRCh38 12 102,399,855
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011713.1:g.85746T>C
NC_000012.12:g.102399855A>G
NC_000012.11:g.102793633A>G
NM_000618.3:c.*2652T>C
More... 		02/24/2021 3 prime utr variant benign infancy <1 / 1 000 000 Growth retardation with sensorineural deafness and mental retardation; IGF1 deficiency; Insulin-like growth factor I deficiency; 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
GCST90245848 Height 5,314,291 European ancestry, Hispanic or Latin American, East Asian ancestry, African ancestry, South Asian ancestry individuals G 0.0279 5E-172 171.30102999566398 Affymetrix, Illumina [1385132] (imputed) 0.0612 body height (EFO:0004339)
 PMID:36224396

Variant Details
Variant Transcripts
Gene Symbol:IGF1
Accession:XM_017019262
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_001111283
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_001414007
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_000618
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:XM_017019263
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_001111284
Location:3UTRS;EXON

Gene Symbol:IGF1
Accession:NM_001414006
Location:INTRON

Gene Symbol:IGF1
Accession:NM_001111285
Location:INTRON

Gene Symbol:IGF1
Accession:XM_017019259
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IGF1
Accession:NM_001414005
Location:INTRON

Gene Symbol:LINC02456
Accession:XR_007063427
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000362408 CLINVAR
  RCV001690018 CLINVAR
dbSNP (RS) rs6218 CLINVAR
GWAS Catalog GCST90245848 GWAS Catalog
MedGen C1837475 CLINVAR
  C3661900 CLINVAR
NCBI Gene IGF1 CLINVAR
  LINC02456 CLINVAR
OMIM 147440 CLINVAR
  608747 CLINVAR