rs55634776 Rat Genome Database

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Variant: rs55634776 -  Homo sapiens

RGD ID: 11629866
RS ID: rs55634776
ClinVar ID: CV344423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: JUP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 39,911,373
GRCh38 17 41,755,121
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_401t2:c.*623G>A
LRG_401:g.36592G>A
NG_009090.2:g.36592G>A
NC_000017.11:g.41755121C>T
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance infancy Arrhythmogenic right ventricular cardiomyopathy, type 12; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant; CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES; Keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY; Mal de Naxos; none provided; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; Woolly hair palmoplantar keratoderma cardiac abnormalities; WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES
Disease Annotations     Click to see Annotation Detail View

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90044746 Arm bone mineral content 2,109 White British ancestry male individuals T NR 1E-8 8.0 NR [6137607] (imputed) 39.77 bone mineral content measurement (EFO:0007621)
 PMID:34239500

Variant Details
Variant Transcripts
Gene Symbol:JUP
Accession:XM_047435939
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:NM_002230
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_006721875
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352773
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_017024590
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352776
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:NM_021991
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435940
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352774
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435938
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435934
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435935
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435942
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435937
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_006721874
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_011524758
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352777
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:XM_047435941
Location:3UTRS;EXON

Gene Symbol:JUP
Accession:NM_001352775
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000335635 CLINVAR
  RCV000396423 CLINVAR
  RCV001785565 CLINVAR
dbSNP (RS) rs55634776 CLINVAR
GWAS Catalog GCST90044746 GWAS Catalog
MedGen C1832600 CLINVAR
  C1969081 CLINVAR
  C3661900 CLINVAR
NCBI Gene JUP CLINVAR
OMIM 173325 CLINVAR
  601214 CLINVAR
  611528 CLINVAR