RGD:11665472 Rat Genome Database

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Variant: RGD:11665472 -  Homo sapiens

RGD ID: 11665472
RS ID: rs1800948
ClinVar ID: CV353743
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 132,129,152
GRCh38 6 131,808,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008206.1:g.4997G>C
NC_000006.12:g.131808012G>C
NC_000006.11:g.132129152G>C
LRG_1288:g.4997G>C
06/14/2016 2kb upstream variant likely benign infancy Idiopathic infantile arterial calcification; Occlusive infantile arteriopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000273887 CLINVAR
  RCV000319599 CLINVAR
dbSNP (RS) rs1800948 CLINVAR
MedGen C4551985 CLINVAR
  CN239452 CLINVAR
NCBI Gene ENPP1 CLINVAR
OMIM 173335 CLINVAR
  208000 CLINVAR