rs17097193 Rat Genome Database

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Variant: rs17097193 -  Homo sapiens

RGD ID: 150509453
RS ID: rs17097193
ClinVar ID: CV1213134
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LEPR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 66,067,396
GRCh38 1 65,601,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_283t1:c.1285+31T>C
LRG_283t2:c.1285+31T>C
LRG_283t4:c.1285+31T>C
NM_001003679.3:c.1285+31T>C
More... 		08/30/2018 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
GCST90019499 C-reactive protein levels 341,805 European ancestry individuals, 6,006 African ancestry individuals, 7,316 South Asian ancestry individuals C NR 2E-12 11.698970004336019 Affymetrix [9000000] (imputed) 0.0468 C-reactive protein measurement (EFO:0004458)
 PMID:33462484
GCST90162396 Leptin receptor levels 2,935 Qatari ancestry individuals C 0.103407 3E-17 16.522878745280337 NR [10004359] 0.381169 leptin receptor measurement (EFO:0004635)
 PMID:36168886

Variant Details
Variant Transcripts
Gene Symbol:LEPR
Accession:NM_001198687
Location:INTRON

Gene Symbol:LEPR
Accession:NM_002303
Location:INTRON

Gene Symbol:LEPR
Accession:NM_001003679
Location:INTRON

Gene Symbol:LEPR
Accession:NM_001003680
Location:INTRON

Gene Symbol:LEPR
Accession:NM_001198689
Location:INTRON

Gene Symbol:LEPR
Accession:NM_001198688
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001596825 CLINVAR
dbSNP (RS) rs17097193 CLINVAR
GWAS Catalog GCST90019499 GWAS Catalog
  GCST90162396 GWAS Catalog
MedGen C3661900 CLINVAR
NCBI Gene LEPR CLINVAR
OMIM 601007 CLINVAR