rs2270374 Rat Genome Database

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Variant: rs2270374 -  Homo sapiens

RGD ID: 13436820
RS ID: rs2270374
ClinVar ID: CV433713
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MVK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 110,029,186
GRCh38 12 109,591,381
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_156:g.22687G>A
NG_007702.1:g.22687G>A
NC_000012.12:g.109591381G>A
NC_000012.11:g.110029186G>A
More... 		01/24/2024 intron variant benign AllHighlyPenetrant; none provided
Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV433713Humanblood total cholesterol level  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:33462484

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV433713Humantotal cholesterol measurement  IAGP 405850206 GWAS_CATALOGPMID:33462484
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
GWAS906635_H GCST90019501 Total cholesterol levels 342,508 European ancestry individuals, 6,014 African ancestry individuals, 7,336 South Asian ancestry individuals A NR 4E-12 11.398 rs2270374 0.0216 total cholesterol measurement (EFO:0004574)
 PMID:33462484

Variant Details
Variant Transcripts
Gene Symbol:MVK
Accession:NM_000431
Location:INTRON

Gene Symbol:MVK
Accession:NM_001114185
Location:INTRON

Gene Symbol:MVK
Accession:NM_001301182
Location:INTRON

Gene Symbol:MVK
Accession:XM_017019313
Location:INTRON

Gene Symbol:MVK
Accession:XM_017019314
Location:INTRON

Gene Symbol:MVK
Accession:XM_047428873
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414511
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414512
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414513
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414514
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414515
Location:INTRON

Gene Symbol:MVK
Accession:NR_182758
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182760
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182759
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182762
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000507822 CLINVAR
  RCV001683543 CLINVAR
dbSNP (RS) rs2270374 CLINVAR
GWAS Catalog GCST90019501 GWAS Catalog
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MVK CLINVAR
OMIM 251170 CLINVAR