rs149870557 Rat Genome Database

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Variant: rs149870557 -  Homo sapiens

RGD ID: 150514527
RS ID: rs149870557
ClinVar ID: CV1228546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIS3L2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 233,199,484
GRCh38 2 232,334,774
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257281.2:c.1582-8571C>T
NM_152383.5:c.2394+39C>T
LRG_534:g.378192C>T
NG_032572.1:g.378192C>T
More... 		02/24/2019 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
GWAS643530_H GCST009867 Waist circumference adjusted for body mass index 457,690 European ancestry individuals ? NR 2E-12 11.699 rs149870557 N/A BMI-adjusted waist circumference (EFO:0007789)
 PMID:31669095

Variant Details
Variant Transcripts
Gene Symbol:DIS3L2
Accession:NM_152383
Location:INTRON

Gene Symbol:DIS3L2
Accession:NM_001257281
Location:INTRON

Gene Symbol:DIS3L2
Accession:NM_001257282
Location:INTRON

Gene Symbol:DIS3L2
Accession:NR_046477
Location:INTRON;NON-CODING

Gene Symbol:DIS3L2
Accession:NR_046476
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001638534 CLINVAR
dbSNP (RS) rs149870557 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DIS3L2 CLINVAR
OMIM 614184 CLINVAR