rs7217986 Rat Genome Database

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Variant: rs7217986 -  Homo sapiens

RGD ID: 13528615
RS ID: rs7217986
ClinVar ID: CV508890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEPTIN9  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 75,369,578
GRCh38 17 77,373,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_370:g.97087T>C
NC_000017.10:g.75369578T>C
NC_000017.11:g.77373496T>C
LRG_370t1:c.23-28563T>C
More... 		07/06/2018 5 prime utr variant|intron variant benign AllHighlyPenetrant; Amyotrophy, hereditary neuralgic; Amyotrophy, hereditary neuralgic, with predilection for brachial plexus; Brachial plexus neuropathy, hereditary; Neuritis with brachial predilection; none provided
Disease Annotations     Click to see Annotation Detail View

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
GCST90002389 Lymphocyte percentage of white cells 408,112 British individuals C 0.48922 3E-12 11.522878745280337 Affymetrix [93095623] (imputed) 0.015478268 lymphocyte percentage of leukocytes (EFO:0007993)
 PMID:32888494
GCST90002355 Neutrophil count 627,215 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals C 0.421299 1E-10 10.0 Affymetrix, Illumina [23114412] (imputed) N/A neutrophil count (EFO:0004833)
 PMID:32888493
GCST90018954 Gamma glutamyl transpeptidase 344,104 European ancestry individuals, 133,471 East Asian ancestry individuals C NR 1E-16 16.0 Affymetrix, Illumina [20535691] (imputed) 0.0178 serum gamma-glutamyl transferase measurement (EFO:0004532)
 PMID:34594039

Variant Details
Variant Transcripts
Gene Symbol:SEPTIN9
Accession:NM_001113493
Location:5UTRS;EXON

Gene Symbol:SEPTIN9
Accession:NM_001113492
Location:5UTRS;INTRON

Gene Symbol:SEPTIN9
Accession:NM_006640
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293697
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113495
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113491
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113496
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293695
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001113494
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293698
Location:INTRON

Gene Symbol:SEPTIN9
Accession:NM_001293696
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000608434 CLINVAR
  RCV001701065 CLINVAR
  RCV001719155 CLINVAR
dbSNP (RS) rs7217986 CLINVAR
GWAS Catalog GCST90002355 GWAS Catalog
  GCST90002389 GWAS Catalog
MedGen C1834304 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SEPT9 CLINVAR
OMIM 162100 CLINVAR
  604061 CLINVAR