rs35229050 Rat Genome Database

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Variant: rs35229050 -  Homo sapiens

RGD ID: 151287900
RS ID: rs35229050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: E2F2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh38 1 23,514,124
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs35229050Humanmean corpuscular hemoglobin  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:34594039
rs35229050Humanmean corpuscular volume  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:34594039

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs35229050Humanreticulocyte morphology trait  IAGP 405850206Based on the EFO term IDGWAS_CATALOGPMID:32888494

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs35229050Humanmean corpuscular hemoglobin  IAGP 405850206 GWAS_CATALOGPMID:34594039
rs35229050Humanmean reticulocyte volume  IAGP 405850206 GWAS_CATALOGPMID:32888494
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
GWAS1186577_H GCST90002396 Mean reticulocyte volume 408,112 British individuals T 0.544591 1E-56 56 rs35229050 0.035641752 mean reticulocyte volume (EFO:0010701)
 PMID:32888494
GWAS728532_H GCST004630 Mean corpuscular hemoglobin 172,332 European ancestry individuals T 0.5455 7E-13 12.155 rs35229050 0.02572019 mean corpuscular hemoglobin (EFO:0004527)
 PMID:27863252
GWAS741704_H GCST90002390 Mean corpuscular hemoglobin 408,112 British individuals T 0.54478 1E-42 42 rs35229050 0.030555816 mean corpuscular hemoglobin (EFO:0004527)
 PMID:32888494
None Available GCST90002397 Mean spheric corpuscular volume 408,112 British individuals T 0.54475 1E-45 45 rs35229050 0.031756576 PMID:32888494
None Available GCST90002392 Mean corpuscular volume 408,112 British individuals T 0.544767 4E-47 46.398 rs35229050 0.0349073 PMID:32888494
None Available GCST90018966 Mean corpuscular volume 350,473 European ancestry individuals, 129,832 East Asian ancestry individuals T NR 1E-35 35 rs35229050 0.0299 PMID:34594039
None Available GCST004602 Mean corpuscular volume 172,433 European ancestry individuals T 0.5455 2E-13 12.699 rs35229050 0.02624126 PMID:27863252
None Available GCST90093297 Mean corpuscular volume 22,267 Amish, White ancestry individuals, 447 Asian ancestry individuals, 12,285 Black individuals, 13,831 Central American ancestry, Cuban ancestry, Dominican ancestry, Mexican ancestry, Puerto Rican ancestry, South American ancestry individuals T NR 2E-9 8.699 rs35229050 0.22 PMID:33887194
GWAS1391461_H GCST90018964 Mean corpuscular hemoglobin 350,472 European ancestry individuals, 128,028 East Asian ancestry individuals T NR 2E-31 30.699 rs35229050 0.028 mean corpuscular hemoglobin (EFO:0004527)
 PMID:34594039

Variant Details
Variant Transcripts
Gene Symbol:E2F2
Accession:XM_047448092
Location:INTRON

Gene Symbol:E2F2
Accession:XM_047448091
Location:INTRON

Gene Symbol:E2F2
Accession:NM_004091
Location:INTRON

Gene Symbol:E2F2
Accession:XM_047448093
Location:INTRON

Gene Symbol:E2F2
Accession:XM_047448094
Location:INTRON

Gene Symbol:E2F2
Accession:XM_011540871
Location:INTRON

Gene Symbol:E2F2
Accession:XM_005245748
Location:INTRON

Gene Symbol:E2F2
Accession:XM_011540870
Location:INTRON

Gene Symbol:E2F2
Accession:XM_005245749
Location:INTRON

Gene Symbol:E2F2
Accession:XM_011540868
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
GWAS Catalog GCST004602 GWAS Catalog
  GCST004630 GWAS Catalog
  GCST90002390 GWAS Catalog
  GCST90002392 GWAS Catalog
  GCST90002396 GWAS Catalog
  GCST90002397 GWAS Catalog