rs1189553 Rat Genome Database

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Variant: rs1189553 -  Homo sapiens

RGD ID: 11604229
RS ID: rs1189553
ClinVar ID: CV316390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 76,468,851
GRCh38 10 74,709,093
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001123.3:c.*648C>T
NC_000010.11:g.74709093C>T
NC_000010.10:g.76468851C>T
NM_001123.4:c.*648C>T
More... 		06/14/2016 3 prime utr variant benign Hypermethioninemia due to adenosine kinase deficiency; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
Disease Annotations     Click to see Annotation Detail View

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
GCST90002320 Lymphocyte count 643,370 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals T 0.768706 1E-10 10.0 Affymetrix, Illumina [23472807] (imputed) N/A lymphocyte count (EFO:0004587)
 PMID:32888493

Variant Details
Variant Transcripts
Gene Symbol:ADK
Accession:NM_006721
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015703
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001202450
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001369124
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015705
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001369123
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_047424621
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015699
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015702
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001123
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:NM_001202449
Location:3UTRS;EXON

Gene Symbol:ADK
Accession:XM_017015704
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015706
Location:INTRON

Gene Symbol:ADK
Accession:XM_017015698
Location:INTRON

Gene Symbol:ADK
Accession:XM_047424620
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000307240 CLINVAR
dbSNP (RS) rs1189553 CLINVAR
GWAS Catalog GCST90002320 GWAS Catalog
MedGen C4706555 CLINVAR
NCBI Gene ADK CLINVAR
OMIM 102750 CLINVAR
  611094 CLINVAR
  614300 CLINVAR