rs12445568 Rat Genome Database

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Variant: rs12445568 -  Homo sapiens

RGD ID: 13801926
RS ID: rs12445568
ClinVar ID: CV577545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STX1B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 31,004,812
GRCh38 16 30,993,491
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.9:g.31004812T>C
NG_041829.1:g.22018A>G
NC_000016.10:g.30993491T>C
NM_052874.4:c.538-7A>G
More... 		07/09/2018 intron variant benign GEFS+, TYPE 9; 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
GCST005527 Psoriasis 10,588 European ancestry cases, 22,806 European ancestry controls C 0.368 1E-16 16.0 Illumina [111236] (imputed) 1.16 psoriasis (EFO:0000676)
 PMID:23143594
GCST003268 Psoriasis vulgaris 4,007 European ancestry cases, 4,934 European ancestry controls C NR 5E-11 10.301029995663981 Illumina [up to 11532644] (imputed) 1.159 psoriasis vulgaris (EFO:1001494)
 PMID:26626624
GCST005232 Neuroticism 329,821 European ancestry individuals T 0.62232 4E-11 10.397940008672037 Illumina [18485882] (imputed) 6.588 neuroticism measurement (EFO:0007660)
 PMID:29255261
GCST90314518 DNMBP/STX4 protein level ratio 43,509 European ancestry individuals ? NR 3E-21 20.522878745280337 Affymetrix [509492] 0.0682241 blood protein measurement (EFO:0007937)
 PMID:38412862

Variant Details
Variant Transcripts
Gene Symbol:STX1B
Accession:NM_052874
Location:INTRON

Gene Symbol:STX1B
Accession:XM_017022893
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000713550 CLINVAR
  RCV001517911 CLINVAR
  RCV002343588 CLINVAR
dbSNP (RS) rs12445568 CLINVAR
GWAS Catalog GCST003268 GWAS Catalog
  GCST005527 GWAS Catalog
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4015395 CLINVAR
NCBI Gene STX1B CLINVAR
OMIM 601485 CLINVAR
  616172 CLINVAR