GWAS1173394_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1173394_H (heel bone mineral density QTL GWAS1173394 (human)) Homo sapiens

Symbol: GWAS1173394_H
Name: heel bone mineral density QTL GWAS1173394 (human)
RGD ID: 597077320
Trait: heel bone mineral density
Measurement Type: bone mineral density   (CMO:0001226)    
LOD Score: Not Available
P Value: 1.0E-50
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38122,384,384 - 22,384,385RGD_MAPPER_PIPELINEGRCh38
GRCh37122,710,877 - 22,710,878RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model




Clinical Measurement
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1173394_HHumanbone mineral density  IAGPrs34963268405850206 GWAS_CATALOGPMID:28869591

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1173394_HHumanheel bone mineral density  IAGPrs34963268405850206 GWAS_CATALOGPMID:28869591

#
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



Peak: (rs34963268)
Human AssemblyChrPosition (strand)Source
GRCh38122,384,384 - 22,384,385RGD_MAPPER_PIPELINE


1 to 10 of 19 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
597287097GWAS1383171_Hulcerative colitis QTL GWAS1383171 (human)1e-29ulcerative colitis12238438422384385Human
597606847GWAS1663707_HRed cell distribution width QTL GWAS1663707 (human)5e-25Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)12238438422384385Human
597227290GWAS1323364_Hheel bone mineral density QTL GWAS1323364 (human)2e-126heel bone mineral densitybone mineral density (CMO:0001226)12238438422384385Human
597043155GWAS1139229_Herythrocyte count QTL GWAS1139229 (human)3e-08erythrocyte countred blood cell count (CMO:0000025)12238438422384385Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
597075226GWAS1171300_Hheel bone mineral density QTL GWAS1171300 (human)1e-25heel bone mineral densitybone mineral density (CMO:0001226)12238438422384385Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
597604977GWAS1661837_HRed cell distribution width QTL GWAS1661837 (human)1e-22Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)12238438422384385Human
597090502GWAS1186576_Hmean reticulocyte volume QTL GWAS1186576 (human)1e-14reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)12238438422384385Human

1 to 10 of 19 rows


1 to 15 of 15 rows
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
GWAS1173394_H GCST006288 Heel bone mineral density 76,067 European ancestry women, 66,420 European ancestry men G 0.823891 1E-50 50 rs34963268 0.0642023 heel bone mineral density (EFO:0009270)
 PMID:28869591
GWAS1139229_H GCST007069 Red blood cell count approximately 445,000 European ancestry individuals ? NR 3E-8 7.523 rs34963268 N/A erythrocyte count (EFO:0004305)
 PMID:30595370
GWAS1171300_H GCST006288 Heel bone mineral density 76,067 European ancestry women, 66,420 European ancestry men G 0.823221 1E-25 25 rs34963268 0.0601535 heel bone mineral density (EFO:0009270)
 PMID:28869591
GWAS1171798_H GCST006288 Heel bone mineral density 76,067 European ancestry women, 66,420 European ancestry men G 0.824657 3E-25 24.523 rs34963268 0.0676047 heel bone mineral density (EFO:0009270)
 PMID:28869591
GWAS1186576_H GCST90002396 Mean reticulocyte volume 408,112 British individuals C 0.176129 1E-14 14 rs34963268 0.02244588 mean reticulocyte volume (EFO:0010701)
 PMID:32888494
GWAS1661837_H GCST90476365 red cell diameter width (RDW, minimum, inv-norm transformed) 380,819 European ancestry individuals G 0.8255 1E-22 22 rs34963268 0.03399 Red cell distribution width (EFO:0009188)
 PMID:39024449
GWAS1663707_H GCST90476361 red cell diameter width (RDW, mean, inv-norm transformed) 380,796 European ancestry individuals G 0.8255 5E-25 24.302 rs34963268 0.03619 Red cell distribution width (EFO:0009188)
 PMID:39024449
GWAS1669284_H GCST90480671 red cell diameter width (RDW, maximum, inv-norm transformed) 110,467 African American or Afro-Caribbean individuals, 51,877 Hispanic or Latin American individuals, 5,548 East Asian ancestry individuals, 380,351 European ancestry individuals G 0.8043 1E-17 17 rs34963268 0.02722 Red cell distribution width (EFO:0009188)
 PMID:39024449
GWAS1671941_H GCST90480672 red cell diameter width (RDW, mean, inv-norm transformed) 110,558 African American or Afro-Caribbean individuals, 51,938 Hispanic or Latin American individuals, 5,549 East Asian ancestry individuals, 380,796 European ancestry individuals G 0.8043 7E-20 19.155 rs34963268 0.03109 Red cell distribution width (EFO:0009188)
 PMID:39024449
GWAS1671943_H GCST90480673 red cell diameter width (RDW, minimum, inv-norm transformed) 110,610 African American or Afro-Caribbean individuals, 51,949 Hispanic or Latin American individuals, 5,548 East Asian ancestry individuals, 380,819 European ancestry individuals G 0.8042 7E-19 18.155 rs34963268 0.0311 Red cell distribution width (EFO:0009188)
 PMID:39024449
GWAS1323364_H GCST006433 Heel bone mineral density 394,929 European ancestry individuals ? NR 2E-126 125.699 rs34963268 0.0630582 heel bone mineral density (EFO:0009270)
 PMID:30048462
GWAS1383171_H GCST90446794 Ulcerative colitis 6,862 East Asian ancestry cases, 15,456 East Asian ancestry controls, 16,390 European ancestry cases, 336,800 European ancestry controls ? NR 1E-29 29 rs34963268 0.1819 ulcerative colitis (EFO:0000729)
 PMID:37156999
None Available GCST90292538 Inflammatory bowel disease 14,393 East Asian ancestry cases, 15,456 East Asian ancestry controls, 30,713 European ancestry cases, 338,106 European ancestry controls ? NR 3E-25 24.523 rs34963268 0.1305 inflammatory bowel disease (EFO:0003767)
 PMID:37156999
GWAS1420564_H GCST90129505 Colorectal cancer 21,731 European ancestry cases, 47,444 European ancestry controls, 78,473 East Asian ancestry cases, 107,143 East Asian ancestry controls C NR 5E-15 14.302 rs34963268 0.06589 PMID:36539618
GWAS1792069_H GCST90321118 Bone mineral density mean 141,261 European ancestry individuals ? NR 1E-10 10 rs34963268 N/A bone density (OBA:1000110)
 PMID:37500982
1 to 15 of 15 rows
Database
Acc Id
Source(s)
GWAS Catalog GCST006288 GWAS Catalog

Note Type Note Reference