rs573814452 Rat Genome Database

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Variant: rs573814452 -  Homo sapiens

RGD ID: 28887332
RS ID: rs573814452
ClinVar ID: CV863972
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDARADD  ENO1P1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 236,646,714
GRCh38 1 236,483,414
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000001.11:g.236483414G>A
NC_000001.10:g.236646714G>A
NG_001115.8:g.417G>A
NG_011566.1:g.94035G>A
More... 		03/02/2018 3 prime utr variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV863972Humanhypohidrotic ectodermal dysplasia  IAGP 8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV863972HumanHypohidrotic ectodermal dysplasia  IAGP 8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
Gene Symbol:EDARADD
Accession:NM_145861
Location:3UTRS;EXON

Gene Symbol:EDARADD
Accession:NM_080738
Location:3UTRS;EXON

Gene Symbol:EDARADD
Accession:NM_001422628
Location:3UTRS;EXON

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Database
Acc Id
Source(s)
ClinVar RCV001098739 CLINVAR
dbSNP (RS) rs573814452 CLINVAR
MedGen C5848103 CLINVAR
NCBI Gene EDARADD CLINVAR
OMIM 606603 CLINVAR
  614941 CLINVAR