RGD:11593141 Rat Genome Database

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Variant: RGD:11593141 -  Homo sapiens

RGD ID: 11593141
RS ID: rs374287142
ClinVar ID: CV277074
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 160,039,994
GRCh38 1 160,070,204
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016411.1:g.4968C>T
NC_000001.11:g.160070204G>A
NC_000001.10:g.160039994G>A
NG_164730.1:g.183G>A
More... 		06/14/2016 5 prime utr variant uncertain significance infancy 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View
EAST syndrome  (IAGP)
Hearing Loss  (IAGP)


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000346004 CLINVAR
  RCV000381065 CLINVAR
dbSNP (RS) rs374287142 CLINVAR
MedGen CN239180 CLINVAR
  CN239440 CLINVAR
NCBI Gene KCNJ10 CLINVAR
  LOC129931687 CLINVAR
OMIM 602208 CLINVAR