GWAS990920_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS990920_H (platelet count QTL GWAS990920 (human)) Homo sapiens

Symbol: GWAS990920_H
Name: platelet count QTL GWAS990920 (human)
RGD ID: 407341944
Trait: platelet quantity   (VT:0003179)    
Measurement Type: platelet count   (CMO:0000029)    
LOD Score: Not Available
P Value: 2.0E-46
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381468,958,750 - 68,958,751RGD_MAPPER_PIPELINEGRCh38
GRCh371469,425,467 - 69,425,468RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS990920_HHumanplatelet count  IAGPrs117672662405850206Based on the EFO term IDGWAS_CATALOGPMID:34594039

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS990920_HHumanplatelet quantity  IAGPrs117672662405850206Based on the EFO term IDGWAS_CATALOGPMID:34594039

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS990920_HHumanplatelet count  IAGPrs117672662405850206 GWAS_CATALOGPMID:34594039
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement
platelet count  (IAGP)

Vertebrate Trait

References

References - curated
# Reference Title Reference Citation
1. RGD GWAS Catalog Import Pipeline RGD pipeline to import data from GWAS Catalog and create human variant and QTL records

Region

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
736411ACTN1actinin alpha 1146887412868979302Human

Position Markers

Peak: (rs117672662)
Human AssemblyChrPosition (strand)Source
GRCh381468,958,750 - 68,958,751RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407003170GWAS652146_Hmean platelet volume QTL GWAS652146 (human)3e-10mean platelet volumemean platelet volume (CMO:0001348)146895875068958751Human
407236261GWAS885237_Hplatelet count QTL GWAS885237 (human)2e-30platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407036515GWAS685491_Hmean platelet volume QTL GWAS685491 (human)3e-51mean platelet volumemean platelet volume (CMO:0001348)146895875068958751Human
407105445GWAS754421_Hplatelet crit QTL GWAS754421 (human)5e-11platelet critplateletcrit (CMO:0001349)146895875068958751Human
407105003GWAS753979_Hplatelet count QTL GWAS753979 (human)3e-36platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407178446GWAS827422_Himmature platelet fraction QTL GWAS827422 (human)4e-09immature platelet fraction146895875068958751Human
406895340GWAS544316_Hmean platelet volume QTL GWAS544316 (human)2e-27mean platelet volumemean platelet volume (CMO:0001348)146895875068958751Human
407109107GWAS758083_Hplatelet component distribution width QTL GWAS758083 (human)6e-25platelet component distribution widthplatelet distribution width (CMO:0001350)146895875068958751Human
406951890GWAS600866_Hplatelet count QTL GWAS600866 (human)1e-28platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
406966389GWAS615365_Hplatelet component distribution width QTL GWAS615365 (human)1e-16platelet component distribution widthplatelet distribution width (CMO:0001350)146895875068958751Human
407199760GWAS848736_Hmean platelet volume QTL GWAS848736 (human)5e-23mean platelet volumemean platelet volume (CMO:0001348)146895875068958751Human
407047156GWAS696132_Hplatelet count QTL GWAS696132 (human)1e-18platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
406992728GWAS641704_Hplatelet count QTL GWAS641704 (human)4e-42platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407206847GWAS855823_Hplatelet count QTL GWAS855823 (human)8e-45platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407161786GWAS810762_Himmature platelet measurement QTL GWAS810762 (human)3e-09immature platelet measurement146895875068958751Human
407341944GWAS990920_Hplatelet count QTL GWAS990920 (human)2e-46platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human


Additional Information

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
The highlighted row represents the current QTL
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
GWAS544316_H GCST004599 Mean platelet volume 164,454 European ancestry individuals C 0.0023 2E-27 26.699 rs117672662 0.4413049 mean platelet volume (EFO:0004584)
 PMID:27863252
GWAS600866_H GCST003383 Platelet count 12,491 Hispanic/Latin American individuals T 0.94 1E-28 28 rs117672662 0.604 platelet count (EFO:0004309)
 PMID:26805783
GWAS615365_H GCST004616 Platelet distribution width 164,433 European ancestry individuals C 0.0023 1E-16 16 rs117672662 0.3333976 platelet component distribution width (EFO:0007984)
 PMID:27863252
GWAS641704_H GCST008039 Platelet count 8,850 African American individuals, 18,949 Hispanic/Latino individuals, 541 Asian ancestry individuals, 603 Native American ancestry individuals, 385 individuals ? NR 4E-42 41.398 rs117672662 18.86567 platelet count (EFO:0004309)
 PMID:31217584
GWAS652146_H GCST90002347 Mean platelet volume 2,810 Hispanic or Latin American individuals T 0.969857651 3E-10 9.523 rs117672662 0.5063 mean platelet volume (EFO:0004584)
 PMID:32888493
GWAS685491_H GCST90002395 Mean platelet volume 408,112 British individuals C 0.00187599999999999 3E-51 50.523 rs117672662 0.40656295 mean platelet volume (EFO:0004584)
 PMID:32888494
GWAS696132_H GCST90002359 Platelet count 9,367 Hispanic or Latin American individuals T 0.960198 1E-18 18 rs117672662 0.317111 platelet count (EFO:0004309)
 PMID:32888493
GWAS753979_H GCST90002402 Platelet count 408,112 British individuals C 0.00187300000000001 3E-36 35.523 rs117672662 0.33953863 platelet count (EFO:0004309)
 PMID:32888494
GWAS754421_H GCST90002400 Plateletcrit 408,112 British individuals C 0.00187400000000004 5E-11 10.302 rs117672662 0.17761326 platelet crit (EFO:0007985)
 PMID:32888494
GWAS758083_H GCST90002401 Platelet distribution width 408,112 British individuals C 0.00187400000000004 6E-25 24.222 rs117672662 0.27916458 platelet component distribution width (EFO:0007984)
 PMID:32888494
GWAS810762_H GCST90281198 High fluorescence immature platelet fraction 36,829 European ancestry individuals C 0.0028 3E-9 8.523 rs117672662 0.455814 immature platelet measurement (EFO:0803541)
 PMID:37596262
GWAS827422_H GCST90281200 Immature platelet fraction 36,615 European ancestry individuals C 0.0028 4E-9 8.398 rs117672662 0.453747 immature platelet fraction (EFO:0009187)
 PMID:37596262
GWAS848736_H GCST90026518 Mean platelet volume 21,347 Hispanic or Latin American individuals T 0.0409 5E-23 22.302 rs117672662 0.4687 mean platelet volume (EFO:0004584)
 PMID:34107879
GWAS855823_H GCST90026525 Platelet count 27,236 European ancestry individuals T 0.053 8E-45 44.097 rs117672662 0.3053 platelet count (EFO:0004309)
 PMID:34107879
GWAS885237_H GCST90094627 Platelet count 14,392 African American individuals, 13,985 Hispanic or Latin American individuals, 32,129 European ancestry individuals, 681 East Asian ancestry individuals, 13 individuals C 0.011601 2E-30 29.699 rs117672662 20.988445 platelet count (EFO:0004309)
 PMID:34553764
GWAS990920_H GCST90018969 Platelet count 350,474 European ancestry individuals, 148,623 East Asian ancestry individuals C NR 2E-46 45.699 rs117672662 0.3857 platelet count (EFO:0004309)
 PMID:34594039
Database Acc Id Source(s)
GWAS Catalog GCST90018969 GWAS Catalog

RGD Curation Notes
Note Type Note Reference