rs11636073 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: rs11636073 -  Homo sapiens

RGD ID: 150458452
RS ID: rs11636073
ClinVar ID: CV1265134
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC12A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 48,539,026
GRCh38 15 48,246,829
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000338.3:c.1453-80A>T
NM_001184832.2:c.1453-80A>T
NM_001384136.1:c.1453-80A>T
NG_021301.1:g.45529A>T
More... 		11/12/2018 intron variant benign none provided
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
GWAS659795_H GCST007739 Skin reflectance (Melanin index) 720 South Asian ancestry individuals T NR 8E-9 8.097 rs11636073 0.354282 skin pigmentation measurement (EFO:0007009)
 PMID:30895295

Variant Details
Variant Transcripts
Gene Symbol:SLC12A1
Accession:NM_001184832
Location:INTRON

Gene Symbol:SLC12A1
Accession:NM_001384136
Location:INTRON

Gene Symbol:SLC12A1
Accession:NM_000338
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001681767 CLINVAR
dbSNP (RS) rs11636073 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC12A1 CLINVAR
OMIM 600839 CLINVAR