rs149429886 Rat Genome Database

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Variant: rs149429886 -  Homo sapiens

RGD ID: 28892118
RS ID: rs149429886
ClinVar ID: CV865147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDARADD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 236,572,581
GRCh38 1 236,409,281
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.236409281G>A
NG_011566.1:g.19902G>A
NM_145861.2:c.120+7G>A
NC_000001.10:g.236572581G>A
More... 		01/13/2018 intron variant benign Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EDARADD
Accession:NM_145861
Location:INTRON

Gene Symbol:EDARADD
Accession:NM_080738
Location:INTRON

Gene Symbol:EDARADD
Accession:NM_001422628
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001100442 CLINVAR
  RCV003117751 CLINVAR
dbSNP (RS) rs149429886 CLINVAR
MedGen C3541517 CLINVAR
  C5848103 CLINVAR
NCBI Gene EDARADD CLINVAR
OMIM 606603 CLINVAR
  614940 CLINVAR
  614941 CLINVAR