rs5030049 Rat Genome Database

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Variant: rs5030049 -  Homo sapiens

RGD ID: 155819671
RS ID: rs5030049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KNG1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh38 3 186,733,074
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs5030049Humanblood protein measurement  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:35078996

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs5030049Humanblood protein measurement  IAGP 405850206 GWAS_CATALOGPMID:35078996
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

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
GWAS604680_H GCST90246630 Bcl-2-like protein 2 levels 10,708 European ancestry individuals T 0.89 1E-24 24 rs5030049 0.222 bcl-2-like protein 2 measurement (EFO:0021928)
 PMID:34648354
GWAS609364_H GCST90246444 Adrenomedullin levels 10,708 European ancestry individuals T 0.89 3E-34 33.523 rs5030049 0.256 adrenomedullin measurement (EFO:0010909)
 PMID:34648354
GWAS1045954_H GCST90101237 Kininogen-1 levels 997 European ancestry individuals ? NR 1E-96 96 rs5030049 N/A kininogen-1 measurement (EFO:0008198)
 PMID:28240269
GWAS1064168_H GCST90087371 Serum levels of protein BCL2L2 5,344 Icelandic ancestry individuals C 0.1193 5E-12 11.302 rs5030049 0.185577 blood protein measurement (EFO:0007937)
 PMID:35078996
GWAS1066457_H GCST90088814 Serum levels of protein KNG1 5,347 Icelandic ancestry individuals C 0.1193 2E-59 58.699 rs5030049 0.444676 blood protein measurement (EFO:0007937)
 PMID:35078996
GWAS1066641_H GCST90087796 Serum levels of protein ADM 5,353 Icelandic ancestry individuals C 0.1193 3E-21 20.523 rs5030049 0.263818 blood protein measurement (EFO:0007937)
 PMID:35078996

Variant Details
Variant Transcripts
Gene Symbol:KNG1
Accession:NM_000893
Location:INTRON

Gene Symbol:KNG1
Accession:NM_001102416
Location:INTRON

Gene Symbol:KNG1
Accession:NM_001166451
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
GWAS Catalog GCST90087796 GWAS Catalog