rs80265967 Rat Genome Database

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Variant: rs80265967 -  Homo sapiens

RGD ID: 8599945
RS ID: rs80265967
ClinVar ID: CV29805
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOD1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 33,039,603
GRCh38 21 31,667,290
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_008689.1:g.12669A>C
NC_000021.9:g.31667290A>C
NC_000021.8:g.33039603A>C
NP_000445.1:p.Asp91Ala
More... 		06/22/2023 missense|missense variant pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance adulthood 1-9 / 100 000 AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL; Charcot disease; Lou Gehrig disease; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90027164 Amyotrophic lateral sclerosis 27,205 European ancestry cases, 110,881 European ancestry controls C 0.006 4E-18 17.397940008672037 Illumina [10461755] (imputed) 1.078 PMID:34873335

Variant Details
Variant Transcripts
Gene Symbol:SOD1
Accession:NM_000454
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTSAGPHFNPLSRKHGGPKDEER
HVGDLGNVTAAKDGVADVSIEDSVISLSGDHCIIGRTLVVHEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ*
Variant Samples
Additional References at PubMed
PMID:7647793   PMID:7655469   PMID:8813280   PMID:8909456   PMID:9365366   PMID:9817920   PMID:10439968   PMID:10809943   PMID:11220750   PMID:11284995   PMID:11369193   PMID:12442272  
PMID:12482932   PMID:14506936   PMID:16945901   PMID:17146286   PMID:17420412   PMID:18319614   PMID:18428003   PMID:18608106   PMID:19483195   PMID:19635794   PMID:19703565   PMID:19922148  
PMID:19965850   PMID:20189984   PMID:20460594   PMID:22264771   PMID:22632444   PMID:23062701   PMID:23280792   PMID:25299611   PMID:25509359   PMID:25741868   PMID:25792239   PMID:25806427  
PMID:26467025   PMID:28105640   PMID:28430856   PMID:28492532   PMID:29861044  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015888 CLINVAR
  RCV000015889 CLINVAR
  RCV000713399 CLINVAR
  RCV001843455 CLINVAR
  RCV003415711 CLINVAR
dbSNP (RS) rs80265967 CLINVAR
GWAS Catalog GCST90027164 GWAS Catalog
MedGen C0002736 CLINVAR
  C1862939 CLINVAR
  C3661900 CLINVAR
  C5686324 CLINVAR
NCBI Gene SOD1 CLINVAR
OMIM 105400 CLINVAR
  147450 CLINVAR
OMIM Allele 147450.0015 CLINVAR
SNOMED CT 86044005 CLINVAR