rs3813135 Rat Genome Database

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Variant: rs3813135 -  Homo sapiens

RGD ID: 151301696
RS ID: rs3813135
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PGLYRP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh38 19 15,476,534
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs3813135Humankidney adrenomedullin level  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:29875488

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs3813135Humankidney adrenomedullin amount  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:29875488

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs3813135Humanadrenomedullin measurement  IAGP 405850206 GWAS_CATALOGPMID:29875488
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

Vertebrate Trait

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
GWAS540231_H GCST90240213 Adrenomedullin levels (ADM.14115.34.3) 3,301 European ancestry individuals C 0.379 2E-26 25.699 rs3813135 0.27 adrenomedullin measurement (EFO:0010909)
 PMID:29875488

Variant Details
Variant Transcripts
Gene Symbol:PGLYRP2
Accession:NM_001363546
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQGVLWILLGLLLWSDPGTASLPLLMDSVIQALAELEQKVPAAKARHTASAWLMSAPNSGPHNRLYHFLLGAWSLNATE
LDPCPLSPELLGLTKEVARHDVREGKEYGVVLAPDGSTVAVEPLLAGLEAGLQGRRVINLPLDSMAAPWETGDTFPDVVA
IAPDVRATSSPGLRDGSPDVTTADIGANTPDATKGCPDVQASLPDAKAKSPPTMVDSLLAVTLAGNLGLTFLRGSQTQSH
PDLGTEGCWDQLSAPRTFTLLDPKASLLTMAFLNGALDGVILGDYLSRTPEPRPSLSHLLSQYYGAGVARDPGFRSNFRR
QNGAALTSASILAQQVWGTLVLLQRLEPVHLQLQCMSQEQLAQVAANATKEFTEAFLGCPAIHPRCRWGAAPYRGRPKLL
QLPLGFLYVHHTYVPAPPCTDFTRCAANMRSMQRYHQDTQGWGDIGYSFVVGSDGYVYEGRGWHWVGAHTLGHNSRGFGV
AIVGNYTAALPTEAALRTVRDTLPSCAVRAGLLRPDYALLGHRQLVRTDCPGDALFDLLRTWPHFTAVSLRSLHYTARRP
SVYTSSTRPLPPACNSCARTASARPPTSRRHVYSGNLGPAFAGHSAGNIPDPVTSAYAASAQPQTQPACPFPSS*

Gene Symbol:PGLYRP2
Accession:NM_052890
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQGVLWILLGLLLWSDPGTASLPLLMDSVIQALAELEQKVPAAKARHTASAWLMSAPNSGPHNRLYHFLLGAWSLNATE
LDPCPLSPELLGLTKEVARHDVREGKEYGVVLAPDGSTVAVEPLLAGLEAGLQGRRVINLPLDSMAAPWETGDTFPDVVA
IAPDVRATSSPGLRDGSPDVTTADIGANTPDATKGCPDVQASLPDAKAKSPPTMVDSLLAVTLAGNLGLTFLRGSQTQSH
PDLGTEGCWDQLSAPRTFTLLDPKASLLTMAFLNGALDGVILGDYLSRTPEPRPSLSHLLSQYYGAGVARDPGFRSNFRR
QNGAALTSASILAQQVWGTLVLLQRLEPVHLQLQCMSQEQLAQVAANATKEFTEAFLGCPAIHPRCRWGAAPYRGRPKLL
QLPLGFLYVHHTYVPAPPCTDFTRCAANMRSMQRYHQDTQGWGDIGYSFVVGSDGYVYEGRGWHWVGAHTLGHNSRGFGV
AIVGNYTAALPTEAALRTVRDTLPSCAVRAGLLRPDYALLGHRQLVRTDCPGDALFDLLRTWPHFTATVKPRPARSVSKR
SRREPPPRTLPATDLQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
GWAS Catalog GCST005806 GWAS Catalog