rs80120242 Rat Genome Database

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Variant: rs80120242 -  Homo sapiens

RGD ID: 150408383
RS ID: rs80120242
ClinVar ID: CV1199911
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAJC13  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 132,235,344
GRCh38 3 132,516,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015268.4:c.5560+4A>T
NG_051045.1:g.103974A>T
NC_000003.12:g.132516500A>T
NM_015268.3:c.5560+4A>T
More... 		07/09/2018 intron variant benign AllHighlyPenetrant; DNAJC13-related condition; none provided
GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS990091_H GCST90319904 Serum urate levels 219,768 East Asian ancestry individuals, 677,373 European ancestry individuals, 132,182 individuals A NR 2E-17 16.699 rs80120242 0.0507 urate measurement (EFO:0004531)
 PMID:38658550
GWAS991204_H GCST90319906 Serum urate levels 677,373 European ancestry individuals A NR 3E-15 14.523 rs80120242 0.0505 urate measurement (EFO:0004531)
 PMID:38658550
GWAS1049338_H GCST008971 Urate levels 288,649 European ancestry individuals A 0.9467 2E-9 8.699 rs80120242 0.062418 urate measurement (EFO:0004531)
 PMID:31578528

Variant Details
Variant Transcripts
Gene Symbol:DNAJC13
Accession:XM_047447819
Location:INTRON

Gene Symbol:DNAJC13
Accession:NM_001329126
Location:INTRON

Gene Symbol:DNAJC13
Accession:NM_015268
Location:INTRON

Gene Symbol:DNAJC13
Accession:XM_047447820
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001580135 CLINVAR
  RCV001685546 CLINVAR
  RCV003983986 CLINVAR
dbSNP (RS) rs80120242 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DNAJC13 CLINVAR
OMIM 614334 CLINVAR