rs72657823 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Variant: rs72657823 -  Homo sapiens

RGD ID: 155836207
RS ID: rs72657823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC158  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh38 4 76,368,255
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs72657823Humanblood creatinine measurement  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:33462484
rs72657823Humanblood cystatin C level  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:33462484
rs72657823Humanglomerular filtration rate  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:33462484

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs72657823Humancreatinine measurement  IAGP 405850206 GWAS_CATALOGPMID:33462484
rs72657823Humancystatin C measurement  IAGP 405850206 GWAS_CATALOGPMID:33462484
rs72657823Humanglomerular filtration rate  IAGP 405850206 GWAS_CATALOGPMID:33462484
Experimental Data Annotations     Click to see Annotation Detail View

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS903077_H GCST90019502 Creatinine levels 342,376 European ancestry individuals, 6,016 African ancestry individuals, 7,339 South Asian ancestry individuals A NR 4E-17 16.398 rs72657823 0.0425 creatinine measurement (EFO:0004518)
 PMID:33462484
GWAS903141_H GCST90019504 Cystatin C levels 342,399 European ancestry individuals, 6,015 African ancestry individuals, 7,338 South Asian ancestry individuals A NR 5E-14 13.302 rs72657823 0.038 cystatin C measurement (EFO:0004617)
 PMID:33462484
GWAS969971_H GCST90019506 Estimated glomerular filtration rate 342,376 European ancestry individuals, 6,016 African ancestry individuals, 7,339 South Asian ancestry individuals A NR 7E-17 16.155 rs72657823 0.0421 glomerular filtration rate (EFO:0005208)
 PMID:33462484

Variant Details
Variant Transcripts
Gene Symbol:CCDC158
Accession:NM_001042784
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531913
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531909
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531917
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531915
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_005262974
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531914
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531910
Location:INTRON

Gene Symbol:CCDC158
Accession:NM_001394954
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531911
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531908
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_017008160
Location:INTRON

Gene Symbol:CCDC158
Accession:XM_011531912
Location:INTRON

Gene Symbol:CCDC158
Accession:XR_938729
Location:INTRON;NON-CODING

Gene Symbol:CCDC158
Accession:XR_938730
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
GWAS Catalog GCST90019504 GWAS Catalog