rs759340051 Rat Genome Database

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Variant: rs759340051 -  Homo sapiens

RGD ID: 28910611
RS ID: rs759340051
ClinVar ID: CV871498
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDNRB  EDNRB-AS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 78,470,043
GRCh38 13 77,895,908
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000115.5:c.*2292A>C
NM_001122659.3:c.*2292A>C
NM_003991.4:c.*534A>C
NG_011630.3:g.83816A>C
More... 		01/15/2018 3 prime utr variant uncertain significance Hirschsprung disease 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EDNRB
Accession:NM_001201397
Location:3UTRS;EXON

Gene Symbol:EDNRB
Accession:NM_000115
Location:3UTRS;EXON

Gene Symbol:EDNRB
Accession:NM_003991
Location:3UTRS;EXON

Gene Symbol:EDNRB
Accession:NM_001122659
Location:3UTRS;EXON

Gene Symbol:EDNRB-AS1
Accession:NR_103853
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001109325 CLINVAR
dbSNP (RS) rs759340051 CLINVAR
MedGen C1838564 CLINVAR
NCBI Gene EDNRB CLINVAR
  EDNRB-AS1 CLINVAR
OMIM 131244 CLINVAR
  600155 CLINVAR