rs3135507 Rat Genome Database

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Variant: rs3135507 -  Homo sapiens

RGD ID: 13521251
RS ID: rs3135507
ClinVar ID: CV487488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 116,661,488
GRCh38 11 116,790,772
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.116790772C>T
NC_000011.9:g.116661488C>T
NP_443200.2:p.Val153Met
NM_052968.4:c.457G>A
More... 		02/01/2024 missense variant benign none provided
Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV487488Humanblood high density lipoprotein cholesterol level  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:36376304

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CV487488Humanhigh density lipoprotein cholesterol measurement  IAGP 405850206 GWAS_CATALOGPMID:36376304
Experimental Data Annotations     Click to see Annotation Detail View

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
GWAS957417_H GCST90179147 High-density lipoprotein levels (MTAG) 361,194 European ancestry individuals T NR 6E-10 9.222 rs3135507 0.05307 high density lipoprotein cholesterol measurement (EFO:0004612)
 PMID:36376304

Variant Details
Variant Transcripts
Gene Symbol:APOA5
Accession:NM_052968
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRMVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_001371904
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRMVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*

Gene Symbol:APOA5
Accession:NM_001166598
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMAAVLTWALALLSAFSATQARKGFWDYFSQTSGDKGRVEQIHQQKMAREPATLKDSLEQDLNNMNKFLEKLRPLSGS
EAPRLPQDPVGMRRQLQEELEEVKARLQPYMAEAHELVGWNLEGLRQQLKPYTMDLMEQVALRVQELQEQLRMVGEDTKA
QLLGGVDEAWALLQGLQSRVVHHTGRFKELFHPYAESLVSGIGRHVQELHRSVAPHAPASPARLSRCVQVLSRKLTLKAK
ALHARIQQNLDQLREELSRAFAGTGTEEGAGPDPQMLSEEVRQRLQAFRQDTYLQIAAFTRAIDQETEEVQQQLAPPPPG
HSAFAPEFQQTDSGKVLSKLQARLDDLWEDITHSLHDQGHSHLGDP*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000589031 CLINVAR
  RCV002341508 CLINVAR
dbSNP (RS) rs3135507 CLINVAR
GWAS Catalog GCST90179147 GWAS Catalog
MedGen C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene APOA5 CLINVAR
OMIM 606368 CLINVAR