rs28784029 Rat Genome Database

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Variant: rs28784029 -  Homo sapiens

RGD ID: 329334242
RS ID: rs28784029
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HERC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh38 15 28,156,194
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rs28784029Humaneye color  IAGP 405850206 GWAS_CATALOGPMID:36672889
rs28784029Humanhair color  IAGP 405850206 GWAS_CATALOGPMID:36672889
rs28784029Humanskin pigmentation measurement  IAGP 405850206 GWAS_CATALOGPMID:36672889
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
GWAS598609_H GCST90255682 Blond vs. brown/black hair color 243 Iberian ancestry cases, 4,702 Iberian ancestry controls T 0.152593 6E-20 19.222 rs28784029 1.06068 hair color (EFO:0003924)
 PMID:36672889
GWAS598797_H GCST90255689 Skin color (Fitzpatrick scale) 4,933 Iberian ancestry individuals T 0.152997 1E-39 39 rs28784029 0.271497 skin pigmentation measurement (EFO:0007009)
 PMID:36672889
GWAS600834_H GCST90255690 Skin color 4,985 Iberian ancestry individuals T 0.153201 5E-11 10.302 rs28784029 0.157295 skin pigmentation measurement (EFO:0007009)
 PMID:36672889
GWAS603024_H GCST90255684 Eye color 4,987 Iberian ancestry individuals T 0.1531 2E-150 149.699 rs28784029 0.833056 eye color (EFO:0003949)
 PMID:36672889
GWAS604483_H GCST90255688 Skin phototype score 4,933 Iberian ancestry individuals T 0.152997 2E-44 43.699 rs28784029 5.56351 skin pigmentation measurement (EFO:0007009)
 PMID:36672889

Variant Details
Variant Transcripts
Gene Symbol:HERC2
Accession:XM_006720727
Location:INTRON

Gene Symbol:HERC2
Accession:XM_047433207
Location:INTRON

Gene Symbol:HERC2
Accession:XM_017022695
Location:INTRON

Gene Symbol:HERC2
Accession:XM_047433209
Location:INTRON

Gene Symbol:HERC2
Accession:NM_004667
Location:INTRON

Gene Symbol:HERC2
Accession:XM_017022698
Location:INTRON

Gene Symbol:HERC2
Accession:XM_047433206
Location:INTRON

Gene Symbol:HERC2
Accession:XM_047433208
Location:INTRON

Gene Symbol:HERC2
Accession:XM_005268276
Location:INTRON

Gene Symbol:HERC2
Accession:XM_017022697
Location:INTRON

Gene Symbol:HERC2
Accession:XM_006720726
Location:INTRON

Gene Symbol:HERC2
Accession:XM_017022696
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
GWAS Catalog GCST90255682 GWAS Catalog
  GCST90255684 GWAS Catalog
  GCST90255688 GWAS Catalog
  GCST90255689 GWAS Catalog
  GCST90255690 GWAS Catalog