rs219780 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: rs219780 -  Homo sapiens

RGD ID: 8606909
RS ID: rs219780
ClinVar ID: CV53256
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN14  CLDN14-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 37,833,307
GRCh38 21 36,461,009
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011777.1:g.120561G>A
NC_000021.9:g.36461009C>T
NC_000021.8:g.37833307C>T
c.687G>A
More... 		01/31/2024 synonymous variant benign|likely benign AllHighlyPenetrant; Deafness, autosomal recessive 29; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Disease 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
GWAS1470123_H GCST000429 Kidney stones 1,507 European ancestry cases, 34,033 European ancestry controls C 0.79 4E-12 11.398 rs219780 1.25 nephrolithiasis (EFO:0004253)
 PMID:19561606

Variant Details
Variant Transcripts
Gene Symbol:CLDN14
Accession:NM_001146078
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146079
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_144492
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_001146077
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:XM_047440735
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:NM_012130
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14
Accession:XM_047440736
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTAVQLLGFLLSFLGMVGTLITTILPHWRRTAHVGTNILTAVSYLKGLWMECVWHSTGIYQCQIYRSLLALPQDLQAA
RALMVISCLLSGIACACAVIGMKCTRCAKGTPAKTTFAILGGTLFILAGLLCMVAVSWTTNDVVQNFYNPLLPSGMKFEI
GQALYLGFISSSLSLIGGTLLCLSCQDEAPYRPYQAPPRATTTTANTAPAYQPPAAYKDNRAPSVTSATHSGYRLNDYV*

Gene Symbol:CLDN14-AS1
Accession:NR_183532
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183531
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183529
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183530
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183533
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183534
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037064 CLINVAR
  RCV000353929 CLINVAR
  RCV002054634 CLINVAR
dbSNP (RS) rs219780 CLINVAR
MedGen C3279660 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CLDN14 CLINVAR
  CLDN14-AS1 CLINVAR
OMIM 605608 CLINVAR
  614035 CLINVAR