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



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

Clinical Measurement
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1199905Humandiastolic blood pressure  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:38689001

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1199905Humandiastolic blood pressure  IAGP 405850206 GWAS_CATALOGPMID:38689001
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
GWAS1295544_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

Gene Symbol:DNAJC13
Accession:NM_015268
Location:INTRON

Gene Symbol:DNAJC13
Accession:NM_001329126
Location:INTRON

Gene Symbol:DNAJC13
Accession:XM_047447819
Location:INTRON

Gene Symbol:DNAJC13
Accession:XM_047447820
Location:INTRON

.
PMID:25741868  



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