rs10906303 Rat Genome Database

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Variant: rs10906303 -  Homo sapiens

RGD ID: 127294910
RS ID: rs10906303
ClinVar ID: CV1156383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC108903148  OPTN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 13,151,354
GRCh38 10 13,109,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001008211.1:c.166+66A>G
NM_001008213.1:c.166+66A>G
NG_051826.1:g.910A>G
NC_000010.11:g.13109354A>G
More... 		12/08/2020 intron variant benign AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e; none provided; OPTN-related open angle glaucoma; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1156383Humanprimary open angle glaucoma  IAGP 8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868 and PMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1156383HumanOpen angle glaucoma  IAGP 8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:25741868 and PMID:28492532
Gene Symbol:OPTN
Accession:NM_001008213
Location:INTRON

Gene Symbol:OPTN
Accession:NM_001008212
Location:INTRON

Gene Symbol:OPTN
Accession:NM_001008211
Location:INTRON

Gene Symbol:OPTN
Accession:NM_021980
Location:INTRON

.
PMID:25741868   PMID:28492532  



1 to 11 of 11 rows
Database
Acc Id
Source(s)
ClinVar RCV001511962 CLINVAR
  RCV001619912 CLINVAR
dbSNP (RS) rs10906303 CLINVAR
MedGen C0339573 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC108903148 CLINVAR
  OPTN CLINVAR
OMIM 137760 CLINVAR
  602432 CLINVAR
  613435 CLINVAR
SNOMED CT 77075001 CLINVAR
1 to 11 of 11 rows