GWAS1067110_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1067110_H (alkaline phosphatase measurement QTL GWAS1067110 (human)) Homo sapiens

Symbol: GWAS1067110_H
Name: alkaline phosphatase measurement QTL GWAS1067110 (human)
RGD ID: 407418134
Trait: alkaline phosphatase measurement
Measurement Type: blood alkaline phosphatase activity level   (CMO:0000576)    
LOD Score: Not Available
P Value: 3.0E-13
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381551,245,609 - 51,245,610RGD_MAPPER_PIPELINEGRCh38
GRCh371551,537,806 - 51,537,807RGD_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)
GWAS1067110_HHumanblood alkaline phosphatase activity level  IAGPrs2414098405850206Based on the EFO term IDGWAS_CATALOGPMID:34594039

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1067110_HHumanalkaline phosphatase measurement  IAGPrs2414098405850206 GWAS_CATALOGPMID:34594039
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

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
12791128MIR4713HGMIR4713 host gene155103748851293912Human
11084865PIRC66piwi-interacting RNA cluster 66155103758451322397Human
1606587CYP19A1cytochrome P450 family 19 subfamily A member 1155120805751338596Human

Position Markers

Peak: (rs2414098)
Human AssemblyChrPosition (strand)Source
GRCh381551,245,609 - 51,245,610RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
407091680GWAS740656_Halkaline phosphatase measurement QTL GWAS740656 (human)6e-13alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)155124560951245610Human
407369588GWAS1018564_Hendometrial carcinoma QTL GWAS1018564 (human)5e-13endometrial carcinoma155124560951245610Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
407348659GWAS997635_Hbone density QTL GWAS997635 (human)2e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)155124560951245610Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
407406542GWAS1055518_Halkaline phosphatase measurement QTL GWAS1055518 (human)1e-19alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)155124560951245610Human
407369584GWAS1018560_Hendometrial endometrioid carcinoma QTL GWAS1018560 (human)2e-13endometrial endometrioid carcinoma155124560951245610Human
407372160GWAS1021136_Hheel bone mineral density QTL GWAS1021136 (human)2e-75heel bone mineral densitybone mineral density (CMO:0001226)155124560951245610Human
407407377GWAS1056353_HBMI-adjusted hip circumference QTL GWAS1056353 (human)2e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)155124560951245610Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
407418134GWAS1067110_Halkaline phosphatase measurement QTL GWAS1067110 (human)3e-13alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)155124560951245610Human


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
GWAS740656_H GCST90011900 Serum alkaline phosphatase levels 390,964 European ancestry individuals T 0.39 6E-13 12.222 rs2414098 7.19 alkaline phosphatase measurement (EFO:0004533)
 PMID:33547301
GWAS997635_H GCST005348 Total body bone mineral density 56,284 European ancestry individuals, up to 1,333 African American individuals, up to 9,328 admixed individuals T 0.3898 2E-8 7.699 rs2414098 0.0329 bone density (EFO:0003923)
 PMID:29304378
GWAS1018560_H GCST003525 Endometrial endometrioid carcinoma 2,082 European ancestry cases, 9,544 European ancestry controls C 0.62 2E-13 12.699 rs2414098 1.18 endometrial endometrioid carcinoma (EFO:1001514)
 PMID:27135401
GWAS1018564_H GCST003524 Endometrial cancer 2,082 European ancestry endometrioid cases, 130 European ancestry cases, 9,544 European ancestry controls C 0.62 5E-13 12.302 rs2414098 1.17 endometrial carcinoma (EFO:1001512)
 PMID:27135401
GWAS1021136_H GCST006433 Heel bone mineral density 394,929 European ancestry individuals ? NR 2E-75 74.699 rs2414098 0.0380203 heel bone mineral density (EFO:0009270)
 PMID:30048462
GWAS1055518_H GCST90013406 Liver enzyme levels (alkaline phosphatase) 437,438 European ancestry individuals T 0.386095 1E-19 19 rs2414098 0.00206267 alkaline phosphatase measurement (EFO:0004533)
 PMID:33972514
GWAS1056353_H GCST012229 Hip index 186,825 British ancestry men T NR 2E-9 8.699 rs2414098 0.0198236 BMI-adjusted hip circumference (EFO:0008039)
 PMID:34021172
GWAS1067110_H GCST90018942 Serum alkaline phosphatase levels 344,292 European ancestry individuals, 118,886 East Asian ancestry individuals C NR 3E-13 12.523 rs2414098 0.0153 alkaline phosphatase measurement (EFO:0004533)
 PMID:34594039
Database Acc Id Source(s)
GWAS Catalog GCST90018942 GWAS Catalog

RGD Curation Notes
Note Type Note Reference