rs2369796 Rat Genome Database

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Variant: rs2369796 -  Homo sapiens

RGD ID: 150407575
RS ID: rs2369796
ClinVar ID: CV1199905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAJC13  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 132,196,816
GRCh38 3 132,477,972
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.132477972A>T
NC_000003.11:g.132196816A>T
NM_015268.4:c.2550-9A>T
NM_001329126.2:c.2565-9A>T
More... 		07/05/2018 intron variant benign AllHighlyPenetrant; none provided
Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV1199905Humandiastolic blood pressure  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:38689001

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV1199905Humandiastolic blood pressure  IAGP 405850206 GWAS_CATALOGPMID:38689001
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

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
GWAS1063800_H GCST90310295 Diastolic blood pressure 1,028,980 European ancestry individuals T NR 1E-7 7 rs2369796 0.0817 diastolic blood pressure (EFO:0006336)
 PMID:38689001

Variant Details
Variant Transcripts
Gene Symbol:DNAJC13
Accession:NM_001329126
Location:INTRON

Gene Symbol:DNAJC13
Accession:NM_015268
Location:INTRON

Gene Symbol:DNAJC13
Accession:XM_047447820
Location:INTRON

Gene Symbol:DNAJC13
Accession:XM_047447819
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001579831 CLINVAR
  RCV001673223 CLINVAR
dbSNP (RS) rs2369796 CLINVAR
GWAS Catalog GCST90310295 GWAS Catalog
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DNAJC13 CLINVAR
OMIM 614334 CLINVAR