rs7584120 Rat Genome Database

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Variant: rs7584120 -  Homo sapiens

RGD ID: 8692472
RS ID: rs7584120
ClinVar ID: CV142441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPT1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 55,873,385
GRCh38 2 55,646,250
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033012.1:g.52661G>C
NC_000002.12:g.55646250C>G
NC_000002.11:g.55873385C>G
NM_033109.5:c.1738+9G>C
More... 		02/22/2016 intron variant benign AllHighlyPenetrant; none provided
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
GCST011950 White matter hyperintensity volume (adjusted for hypertension) 46,055 European ancestry individuals G 0.8902 0.000007 5.154901959985743 Affymetrix, Illumina [9900000] (imputed) 0.0465 white matter hyperintensity measurement (EFO:0005665)
 PMID:33293549
GCST011946 White matter hyperintensity volume 2,516 African American individuals, 48,454 European ancestry individuals G 0.8902 2E-7 6.698970004336019 Affymetrix, Illumina [9900000] (imputed) 0.0511 white matter hyperintensity measurement (EFO:0005665)
 PMID:33293549
GCST011949 White matter hyperintensity volume (adjusted for hypertension) 46,055 European ancestry individuals, 2,469 African American individuals G 0.8902 8E-7 6.096910013008056 Affymetrix, Illumina [9900000] (imputed) 0.0494 white matter hyperintensity measurement (EFO:0005665)
 PMID:33293549
GCST011947 White matter hyperintensity volume 48,454 European ancestry individuals G 0.8902 0.000001 6.0 Affymetrix, Illumina [9900000] (imputed) 0.0487 white matter hyperintensity measurement (EFO:0005665)
 PMID:33293549
GCST011952 White matter hyperintensity volume x hypertension interaction (2df) 46,055 European ancestry individuals, 2,469 African American individuals G 0.8902 0.000003 5.522878745280337 Affymetrix, Illumina [9900000] (imputed) N/A hypertension (EFO:0000537)
white matter hyperintensity measurement (EFO:0005665)
 PMID:33293549

Variant Details
Variant Transcripts
Gene Symbol:PNPT1
Accession:XM_047446161
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_005264629
Location:INTRON

Gene Symbol:PNPT1
Accession:XM_017005172
Location:INTRON

Gene Symbol:PNPT1
Accession:NM_033109
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000127510 CLINVAR
  RCV000676643 CLINVAR
dbSNP (RS) rs7584120 CLINVAR
GWAS Catalog GCST011946 GWAS Catalog
  GCST011947 GWAS Catalog
  GCST011949 GWAS Catalog
  GCST011950 GWAS Catalog
  GCST011952 GWAS Catalog
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNPT1 CLINVAR
OMIM 610316 CLINVAR