rs2481 Rat Genome Database

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Variant: rs2481 -  Homo sapiens

RGD ID: 11614115
RS ID: rs2481
ClinVar ID: CV338001
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 36,677,400
GRCh38 22 36,281,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_567:g.111665C>T
NG_011884.2:g.111665C>T
NC_000022.11:g.36281354G>A
NC_000022.10:g.36677400G>A
More... 		01/12/2018 3 prime utr variant benign Autosomal dominant nonsyndromic deafness 17; Deafness, autosomal dominant 17; Deafness, autosomal dominant nonsyndromic sensorineural 17; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; none provided; Nonsyndromic hereditary deafness DFNA17
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH9
Accession:NM_002473
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000274254 CLINVAR
  RCV000366504 CLINVAR
  RCV004713781 CLINVAR
dbSNP (RS) rs2481 CLINVAR
MedGen C1854520 CLINVAR
  C1863659 CLINVAR
  C3661900 CLINVAR
NCBI Gene MYH9 CLINVAR
OMIM 160775 CLINVAR
  603622 CLINVAR