GWAS671539_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS671539_H (endometriosis QTL GWAS671539 (human)) Homo sapiens

Symbol: GWAS671539_H
Name: endometriosis QTL GWAS671539 (human)
RGD ID: 407022563
Trait: endometriosis
LOD Score: Not Available
P Value: 3.0E-9
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38122,123,994 - 22,123,995RGD_MAPPER_PIPELINEGRCh38
GRCh37122,450,487 - 22,450,488RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS671539_HHumanendometriosis  IAGPrs2235529405850206Based on the EFO term IDGWAS_CATALOGPMID:23472165

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS671539_HHumanEndometriosis  IAGPrs2235529405850206Based on the EFO term IDGWAS_CATALOGPMID:23472165
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS671539_HHumanendometriosis  IAGPrs2235529405850206 GWAS_CATALOGPMID:23472165

#
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


The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD ID
Symbol
Name
Chr
Start
Stop
Species
733867WNT4Wnt family member 412211731322143097Human


Peak: (rs2235529)
Human AssemblyChrPosition (strand)Source
GRCh38122,123,994 - 22,123,995RGD_MAPPER_PIPELINE


1 to 10 of 10 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
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407022563GWAS671539_Hendometriosis QTL GWAS671539 (human)3e-09endometriosis12212399422123995Human
407071362GWAS720338_Hwaist-hip ratio QTL GWAS720338 (human)5e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)12212399422123995Human
407071097GWAS720073_HBMI-adjusted waist-hip ratio QTL GWAS720073 (human)2e-17body size trait (VT:0100005)12212399422123995Human
597331888GWAS1427962_Hage at first birth measurement, uterine fibroid QTL GWAS1427962 (human)3e-30age at first birth measurement, uterine fibroidmaternal age at birth of first offspring (CMO:0002510)12212399422123995Human
597162509GWAS1258583_Hendometriosis QTL GWAS1258583 (human)2e-09endometriosis12212399422123995Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human

1 to 10 of 10 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
GWAS671539_H GCST001894 Endometriosis 1,514 European ancestry cases, 12,660 European ancestry controls A 0.153 3E-9 8.523 rs2235529 1.3 endometriosis (EFO:0001065)
 PMID:23472165
GWAS1707774_H GCST002496 Bone mineral density (paediatric, upper limb) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children C 0.85 1E-8 8 rs2235529 0.117 bone density (OBA:1000110)
 PMID:24945404
GWAS1707778_H GCST002496 Bone mineral density (paediatric, upper limb) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children C NR 3E-7 6.523 rs2235529 0.1173 bone density (OBA:1000110)
 PMID:24945404
GWAS720073_H GCST008733 Waist-to-hip ratio adjusted for BMI 660,648 European ancestry individuals C 0.84 2E-17 16.699 rs2235529 0.021 BMI-adjusted waist-hip ratio (EFO:0007788)
 PMID:30575882
GWAS720338_H GCST008734 Waist-hip ratio 663,598 European ancestry individuals C 0.84 5E-8 7.302 rs2235529 N/A waist-hip ratio (EFO:0004343)
 PMID:30575882
GWAS1258583_H GCST90018839 Endometriosis 4,511 European ancestry cases, 227,260 European ancestry controls, 1,786 East Asian ancestry cases, 80,975 East Asian ancestry controls T NR 2E-9 8.699 rs2235529 0.1351 endometriosis (EFO:0001065)
 PMID:34594039
GWAS1427962_H GCST90428288 Age at first birth or uterine leiomyomata (pleiotropy) 35,474 European ancestry uterine leiomyomata cases, 267,505 European ancestry controls, 418,758 European ancestry individuals with age at first birth measurements T NR 3E-30 29.523 rs2235529 N/A age at first birth measurement (EFO:0009101)
uterine fibroid (EFO:0000731)
 PMID:38191017
Database
Acc Id
Source(s)
GWAS Catalog GCST001894 GWAS Catalog

Note Type Note Reference