rs188152577 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: rs188152577 -  Homo sapiens

RGD ID: 150404985
RS ID: rs188152577
ClinVar ID: CV1190301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIAPH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 140,998,080
GRCh38 5 141,618,513
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1117t2:c.117+285C>T
NM_001079812.3:c.117+285C>T
NM_001314007.2:c.117+285C>T
NG_011594.2:g.5543C>T
More... 		05/06/2019 intron variant likely benign none provided

Gene Symbol:DIAPH1
Accession:NM_001079812
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_005219
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_001314007
Location:INTRON

Gene Symbol:DIAPH1
Accession:XM_047416885
Location:INTRON

Gene Symbol:DIAPH1
Accession:XM_047416884
Location:INTRON

.


Database
Acc Id
Source(s)
ClinVar RCV001564078 CLINVAR
dbSNP (RS) rs188152577 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DIAPH1 CLINVAR
OMIM 602121 CLINVAR