RGD:11612808 Rat Genome Database

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Variant: RGD:11612808 -  Homo sapiens

RGD ID: 11612808
RS ID: rs112046757
ClinVar ID: CV326201
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VWF  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,094,290
GRCh38 12 5,985,124
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.5985124A>T
NC_000012.11:g.6094290A>T
NM_000552.3:c.6902-5T>A
NM_000552.5:c.6902-5T>A
More... 		10/16/2023 intron variant benign|likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VWF
Accession:XM_047429501
Location:INTRON

Gene Symbol:VWF
Accession:NM_000552
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23311757   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000262904 CLINVAR
  RCV003477886 CLINVAR
dbSNP (RS) rs112046757 CLINVAR
MedGen C3661900 CLINVAR
  C5703318 CLINVAR
NCBI Gene VWF CLINVAR
OMIM 613160 CLINVAR