rs1251075 Rat Genome Database

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Variant: rs1251075 -  Homo sapiens

RGD ID: 14730257
RS ID: rs1251075
ClinVar ID: CV658055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADM  LOC129930773  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 76,190,569
GRCh38 1 75,724,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286044.2:c.-268+67C>G
NM_001286042.2:c.10+67C>G
NM_000016.6:c.30+67C>G
NM_001127328.3:c.30+67C>G
More... 		06/16/2018 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
GCST90265397 Urine indolepropionylglycine levels in chronic kidney disease 4,861 European ancestry individuals G 0.32 3E-15 14.522878745280337 Illumina [7723644] (imputed) 0.234 indolepropionylglycine measurement (EFO:0800089)
 PMID:37277652
GCST90266464 Plasma X-18921 levels in chronic kidney disease 4,936 European ancestry individuals G 0.32 6E-12 11.221848749616356 Illumina [7724271] (imputed) 0.156 X-18921 measurement (EFO:0800796)
 PMID:37277652
GCST009733 Urinary metabolite levels in chronic kidney disease 1,221 cases G 0.32 2E-18 17.69897000433602 Illumina [7750367] (imputed) 0.37 urinary metabolite measurement (EFO:0005116)
 PMID:31959995
GCST009733 Urinary metabolite levels in chronic kidney disease 1,221 cases G 0.32 5E-23 22.30102999566398 Illumina [7750367] (imputed) 0.331 urinary metabolite measurement (EFO:0005116)
 PMID:31959995
GCST009733 Urinary metabolite levels in chronic kidney disease 1,221 cases G 0.32 2E-20 19.69897000433602 Illumina [7750367] (imputed) 0.426 urinary metabolite measurement (EFO:0005116)
 PMID:31959995

Variant Details
Variant Transcripts
Gene Symbol:ACADM
Accession:NM_001286044
Location:5UTRS;INTRON

Gene Symbol:ACADM
Accession:NM_001286042
Location:INTRON

Gene Symbol:ACADM
Accession:NM_000016
Location:INTRON

Gene Symbol:ACADM
Accession:NM_001286043
Location:INTRON

Gene Symbol:ACADM
Accession:NM_001127328
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000835588 CLINVAR
dbSNP (RS) rs1251075 CLINVAR
GWAS Catalog GCST009733 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene ACADM CLINVAR
  LOC129930773 CLINVAR
OMIM 607008 CLINVAR