rs689449 Rat Genome Database

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Variant: rs689449 -  Homo sapiens

RGD ID: 11598529
RS ID: rs689449
ClinVar ID: CV288507
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UMPS  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 124,467,247
GRCh38 3 124,748,400
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_017037.1:g.23035C>A
NC_000003.12:g.124748400C>A
NC_000003.11:g.124467247C>A
NM_000373.4:c.*4316C>A
More...
06/14/2016 3 prime utr variant benign infancy <1 / 1 000 000 OPRT AND ODC DEFICIENCY; Orotate phosphoribosyltransferase and omp decarboxylase deficiency; OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY; OROTIC ACIDURIA I; Orotic aciduria II (formerly); Orotic aciduria type 1; Oroticaciduria; Oroticaciduria 1; Orotidylic decarboxylase deficiency; OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY; UMP SYNTHASE DEFICIENCY; UMP synthtase deficiency; UMPS DEFICIENCY; URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY; Uridine monophosphate synthetase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Oroticaciduria  (IAGP)
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
GCST004599 Mean platelet volume 164,454 European ancestry individuals A 0.2933 1E-19 19.0 Affymetrix [~ 2500000] (imputed) 0.03602182 mean platelet volume (EFO:0004584)
PMID:27863252
GCST90281197 Platelet forward scatter distribution width 29,618 European ancestry individuals A 0.3001 2E-12 11.698970004336019 Affymetrix [29500000] (imputed) 0.0621363 platelet measurement (EFO:0005036)
PMID:37596262
GCST90281193 Platelet side fluorescence 29,678 European ancestry individuals A 0.3 1E-10 10.0 Affymetrix [29500000] (imputed) 0.0572566 platelet measurement (EFO:0005036)
PMID:37596262
GCST90002395 Mean platelet volume 408,112 British individuals A 0.292468 8E-64 63.096910013008056 Affymetrix [93095623] (imputed) 0.041390087 mean platelet volume (EFO:0004584)
PMID:32888494

Variant Details
Variant Transcripts
Gene Symbol:UMPS
Accession:NM_000373
Location:3UTRS;EXON

Gene Symbol:UMPS
Accession:NR_033437
Location:EXON;NON-CODING

Gene Symbol:UMPS
Accession:NR_033434
Location:EXON;NON-CODING

Gene Symbol:UMPS
Accession:XR_001740253
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000406959 CLINVAR
dbSNP (RS) rs689449 CLINVAR
GWAS Catalog GCST004599 GWAS Catalog
  GCST90002395 GWAS Catalog
MedGen C0268128 CLINVAR
NCBI Gene UMPS CLINVAR
OMIM 258900 CLINVAR
  613891 CLINVAR
SNOMED CT 47641009 CLINVAR