rs138725621 Rat Genome Database

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Variant: rs138725621 -  Homo sapiens

RGD ID: 11551081
RS ID: rs138725621
ClinVar ID: CV251981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 70,948,618
GRCh38 5 71,652,791
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008882.1:g.70504C>G
NC_000005.10:g.71652791C>G
NC_000005.9:g.70948618C>G
NM_001363147.1:c.1460+37C>G
More... 		05/06/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided
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
GCST004441 Interleukin-18 levels 3,636 Finnish ancestry individuals G NR 0.000007 5.154901959985743 NR [10700000] (imputed) 0.3565 interleukin 18 measurement (EFO:0004581)
 PMID:27989323

Variant Details
Variant Transcripts
Gene Symbol:MCCC2
Accession:NM_022132
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417468
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417469
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417470
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_011543529
Location:INTRON

Gene Symbol:MCCC2
Accession:NM_001363147
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_017009688
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252585 CLINVAR
  RCV001582876 CLINVAR
dbSNP (RS) rs138725621 CLINVAR
GWAS Catalog GCST004441 GWAS Catalog
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MCCC2 CLINVAR
OMIM 609014 CLINVAR