RGD:28886632 Rat Genome Database

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Variant: RGD:28886632 -  Homo sapiens

RGD ID: 28886632
RS ID: rs556369764
ClinVar ID: CV884466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC108167315  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 25,391,559
GRCh38 2 25,168,690
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_050903.1:g.337G>T
NC_000002.12:g.25168690G>T
NC_000002.11:g.25391559G>T
NM_001035256.1:c.-263C>A
More...
04/27/2017 5 prime utr variant uncertain significance Obesity disorder; Obesity, adrenal insufficiency, and red hair due to POMC deficiency; OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR; Proopiomelanocortin deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Obesity  (IAGP)

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001137864 CLINVAR
  RCV001137865 CLINVAR
dbSNP (RS) rs556369764 CLINVAR
MedGen C0028754 CLINVAR
  C1857854 CLINVAR
NCBI Gene 108167315 CLINVAR
  POMC CLINVAR
OMIM 176830 CLINVAR
  609734 CLINVAR
SNOMED CT 414916001 CLINVAR