rs617577 Rat Genome Database

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Variant: rs617577 -  Homo sapiens

RGD ID: 150446009
RS ID: rs617577
ClinVar ID: CV1250602
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MACF1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 39,910,684
GRCh38 1 39,445,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_050926.1:g.368596T>C
NC_000001.11:g.39445012T>C
NC_000001.10:g.39910684T>C
NM_012090.5:c.13428+177T>C
More... 		05/13/2021 intron variant benign none provided
GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS696152_H GCST90271804 Medial prefrontal thickness (unadjusted for global measures) 32,488 European ancestry individuals ? NR 6E-9 8.222 rs617577 0.0766 cortical thickness (EFO:0004840)
 PMID:36893272
None Available GCST90399881 Regional cortical thickness (fusiform) 34,554 European ancestry individuals T NR 4E-9 8.398 rs617577 N/A cortical thickness (EFO:0004840)
 PMID:38890310
None Available GCST90399882 Regional cortical thickness (inferiorparietal) 34,532 European ancestry individuals T NR 9E-9 8.046 rs617577 N/A cortical thickness (EFO:0004840)
 PMID:38890310
None Available GCST90399904 Regional cortical thickness (superiorfrontal) 34,544 European ancestry individuals T NR 5E-9 8.302 rs617577 N/A cortical thickness (EFO:0004840)
 PMID:38890310
None Available GCST90399875 Global cortical thickness (GlobalMeanMean) 34,552 European ancestry individuals T NR 1E-10 10 rs617577 N/A cortical thickness (EFO:0004840)
 PMID:38890310
None Available GCST90399900 Regional cortical thickness (precentral) 34,559 European ancestry individuals T NR 2E-8 7.699 rs617577 N/A cortical thickness (EFO:0004840)
 PMID:38890310
None Available GCST90399886 Regional cortical thickness (lateralorbitofrontal) 34,562 European ancestry individuals T NR 3E-8 7.523 rs617577 N/A cortical thickness (EFO:0004840)
 PMID:38890310
None Available GCST90399887 Regional cortical thickness (lingual) 34,578 European ancestry individuals T NR 4E-8 7.398 rs617577 N/A cortical thickness (EFO:0004840)
 PMID:38890310
None Available GCST90399901 Regional cortical thickness (precuneus) 34,559 European ancestry individuals T NR 3E-8 7.523 rs617577 N/A cortical thickness (EFO:0004840)
 PMID:38890310

Variant Details
Variant Transcripts
Gene Symbol:MACF1
Accession:NM_001397473
Location:INTRON

Gene Symbol:MACF1
Accession:NM_001394062
Location:INTRON

Gene Symbol:MACF1
Accession:NM_012090
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001667106 CLINVAR
dbSNP (RS) rs617577 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MACF1 CLINVAR
OMIM 608271 CLINVAR