rs766829176 Rat Genome Database

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Variant: rs766829176 -  Homo sapiens

RGD ID: 34895183
RS ID: rs766829176
ClinVar ID: CV916337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 67,457,431
GRCh38 15 67,165,093
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145103.2:c.268+5G>T
NM_001145102.2:c.85+5G>T
NM_005902.4:c.400+5G>T
NM_005902.3:c.400+5G>T
More... 		05/18/2023 intron variant uncertain significance AllHighlyPenetrant; ANEURYSMS-OSTEOARTHRITIS SYNDROME; Loeys-Dietz syndrome 3; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome, type 1C; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD3
Accession:NM_001407016
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145104
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407015
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407013
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145102
Location:INTRON

Gene Symbol:MADH3
Accession:NM_005902
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407011
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001185190 CLINVAR
  RCV003323806 CLINVAR
  RCV004008520 CLINVAR
dbSNP (RS) rs766829176 CLINVAR
MedGen C3151087 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene SMAD3 CLINVAR
OMIM 603109 CLINVAR
  613795 CLINVAR