rs149135973 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: rs149135973 -  Homo sapiens

RGD ID: 152039914
RS ID: rs149135973
ClinVar ID: CV1608729
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SMAD2  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 18 45,391,421
GRCh38 18 47,865,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001135937.3:c.640+10del
NM_001003652.4:c.730+10del
NM_005901.6:c.730+10del
NG_029946.1:g.71096del
More... 		04/12/2021 intron variant benign|likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; SMAD2-related condition; SMAD2-related disorders
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1608729HumanCONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY  IAGP 8554872ClinVar Annotator: match by term: SMAD2-related conditionClinVarPMID:28492532


.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002107584 CLINVAR
  RCV004553724 CLINVAR
dbSNP (RS) rs149135973 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR