rs6586283 Rat Genome Database

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Variant: rs6586283 -  Homo sapiens

RGD ID: 14745529
RS ID: rs6586283
ClinVar ID: CV670381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 44,478,680
GRCh38 21 43,058,570
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321072.1:c.1043+264A>G
NM_001178009.3:c.1358+264A>G
NG_008938.1:g.22361A>G
NC_000021.9:g.43058570T>C
More... 		06/18/2018 intron variant benign 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
GCST90245124 Betaine levels 14,296 European ancestry individuals T 0.8254 7E-30 29.154901959985743 Affymetrix [NR] (imputed) 0.15044782 plasma betaine measurement (EFO:0007787)
 PMID:36357675
GCST90264858 Plasma betaine levels in chronic kidney disease 4,960 European ancestry individuals C 0.17 6E-12 11.221848749616356 Illumina [7723840] (imputed) 0.056 plasma betaine measurement (EFO:0007787)
 PMID:37277652

Variant Details
Variant Transcripts
Gene Symbol:CBS
Accession:XM_047441030
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441023
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441019
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178009
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529783
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441024
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441025
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441032
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441021
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441018
Location:INTRON

Gene Symbol:CBS
Accession:NM_001178008
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441027
Location:INTRON

Gene Symbol:CBS
Accession:NM_001321072
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441031
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529777
Location:INTRON

Gene Symbol:CBS
Accession:XM_017028491
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441028
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441017
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441026
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441033
Location:INTRON

Gene Symbol:CBS
Accession:XM_011529774
Location:INTRON

Gene Symbol:CBS
Accession:NM_001320298
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441022
Location:INTRON

Gene Symbol:CBS
Accession:NM_000071
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441020
Location:INTRON

Gene Symbol:CBS
Accession:XM_047441029
Location:INTRON

Gene Symbol:CBS
Accession:XR_007067793
Location:INTRON;NON-CODING

Gene Symbol:CBS
Accession:XR_001754915
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000843470 CLINVAR
dbSNP (RS) rs6586283 CLINVAR
GWAS Catalog GCST90264858 GWAS Catalog
MedGen CN517202 CLINVAR
NCBI Gene CBS CLINVAR
OMIM 613381 CLINVAR