GWAS676234_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS676234_H (wet macular degeneration QTL GWAS676234 (human)) Homo sapiens

Symbol: GWAS676234_H
Name: wet macular degeneration QTL GWAS676234 (human)
RGD ID: 407027258
Trait: wet macular degeneration
LOD Score: Not Available
P Value: 1.0E-12
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38196,718,376 - 6,718,377RGD_MAPPER_PIPELINEGRCh38
GRCh37196,718,387 - 6,718,388RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS676234_HHumanwet macular degeneration  IAGPrs2230199405850206 GWAS_CATALOGPMID:22705344
Disease Annotations     Click to see Annotation Detail View

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
735504C3complement C31966777046720650Human

Position Markers

Peak: (rs2230199)
Human AssemblyChrPosition (strand)Source
GRCh38196,718,376 - 6,718,377RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
407293892GWAS942868_Hcomplement C3D fragment measurement QTL GWAS942868 (human)2e-13complement protein amount (VT:0010033)1967183766718377Human
407027265GWAS676241_Hatrophic macular degeneration QTL GWAS676241 (human)5e-13atrophic macular degeneration1967183766718377Human
407096134GWAS745110_Hage-related macular degeneration, disease progression measurement QTL GWAS745110 (human)1e-09age-related macular degeneration, disease progression measurementdisease progression measurement (CMO:0001110)1967183766718377Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
407044909GWAS693885_Hage-related macular degeneration QTL GWAS693885 (human)1e-08age-related macular degeneration1967183766718377Human
407049357GWAS698333_Hage-related macular degeneration QTL GWAS698333 (human)5e-29age-related macular degeneration1967183766718377Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
407298484GWAS947460_Hcomplement C3D fragment measurement QTL GWAS947460 (human)1e-16complement protein amount (VT:0010033)1967183766718377Human
407032593GWAS681569_Hatrophic macular degeneration, age-related macular degeneration, wet macular degeneration QTL GWAS681569 (human)4e-69atrophic macular degeneration, age-related macular degeneration, wet macular degeneration1967183766718377Human
406961618GWAS610594_Hcomplement C3B measurement QTL GWAS610594 (human)9e-17complement protein amount (VT:0010033)1967183766718377Human
407029108GWAS678084_Hage-related macular degeneration QTL GWAS678084 (human)2e-08age-related macular degeneration1967183766718377Human
407050997GWAS699973_Hage-related macular degeneration QTL GWAS699973 (human)1e-10age-related macular degeneration1967183766718377Human
407200691GWAS849667_Hblood protein measurement QTL GWAS849667 (human)2e-21blood protein measurementblood protein measurement (CMO:0000028)1967183766718377Human
407027258GWAS676234_Hwet macular degeneration QTL GWAS676234 (human)1e-12wet macular degeneration1967183766718377Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
407028863GWAS677839_Hage-related macular degeneration QTL GWAS677839 (human)1e-41age-related macular degeneration1967183766718377Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human


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
GWAS610594_H GCST90246777 Complement C3b levels 10,708 European ancestry individuals C 0.21 9E-17 16.046 rs2230199 0.134 complement C3B measurement (EFO:0020275)
 PMID:34648354
GWAS676234_H GCST001579 Age-related macular degeneration (choroidal neovascularisation) 1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls C 0.193 1E-12 12 rs2230199 1.61 wet macular degeneration (EFO:0004683)
 PMID:22705344
GWAS676241_H GCST001578 Age-related macular degeneration (geographic atrophy) 819 European ancestry geographic atrophy cases, 4,134 European ancestry controls C .19 5E-13 12.302 rs2230199 1.83 atrophic macular degeneration (EFO:1001492)
 PMID:22705344
GWAS677839_H GCST001884 Age-related macular degeneration 6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls C 0.2 1E-41 41 rs2230199 1.42 age-related macular degeneration (EFO:0001365)
 PMID:23455636
GWAS678084_H GCST000653 Age-related macular degeneration 979 cases, 1,709 controls ? NR 2E-8 7.699 rs2230199 N/A age-related macular degeneration (EFO:0001365)
 PMID:20385826
GWAS681569_H GCST003219 Advanced age-related macular degeneration 16,144 European ancestry cases, 17,832 European ancestry controls ? NR 4E-69 68.398 rs2230199 1.43 atrophic macular degeneration (EFO:1001492)
age-related macular degeneration (EFO:0001365)
wet macular degeneration (EFO:0004683)
 PMID:26691988
GWAS693885_H GCST000806 Age-related macular degeneration 684 European ancestry cases, 188 European ancestry controls C NR 1E-8 8 rs2230199 1.44 age-related macular degeneration (EFO:0001365)
 PMID:20861866
GWAS698333_H GCST001100 Age-related macular degeneration 2,594 European ancestry cases, 4,134 European ancestry controls C 0.19 5E-29 28.302 rs2230199 1.53 age-related macular degeneration (EFO:0001365)
 PMID:21665990
GWAS699973_H GCST000652 Age-related macular degeneration 2,157 European ancestry cases, 1,150 European ancestry controls C 0.163 1E-10 10 rs2230199 1.74 age-related macular degeneration (EFO:0001365)
 PMID:20385819
GWAS745110_H GCST005359 Disease progression in age-related macular degeneration 1,105 progressed eyes and 3,912 non-progressed eyes from 2,721 European ancestry individuals G 0.24 1E-9 9 rs2230199 1.45 age-related macular degeneration (EFO:0001365)
disease progression measurement (EFO:0008336)
 PMID:29346644
GWAS849667_H GCST90089593 Serum levels of protein HLA-DRB3 5,351 Icelandic ancestry individuals C 0.2359 2E-21 20.699 rs2230199 0.197548 blood protein measurement (EFO:0007937)
 PMID:35078996
GWAS942868_H GCST90162444 Complement C3d fragment levels 2,935 Qatari ancestry individuals C 0.116695 2E-13 12.699 rs2230199 0.306816 complement C3D fragment measurement (EFO:0020277)
 PMID:36168886
GWAS947460_H GCST90137937 Complement C3d fragment levels 1,852 African American or Afro-Caribbean individuals ? NR 1E-16 16 rs2230199 0.42 complement C3D fragment measurement (EFO:0020277)
 PMID:34814699
None Available GCST90446797 Age-related macular degeneration 2,394 European ancestry cases, 2,393 European ancestry controls ? NR 3E-20 19.523 rs2230199 N/A age-related macular degeneration (EFO:0001365)
 PMID:37934784
None Available GCST90448094 Age-related macular degeneration 2,123 European ancestry cases, 2,704 European ancestry controls ? NR 4E-24 23.398 rs2230199 1.649 age-related macular degeneration (EFO:0001365)
 PMID:37975850
Database Acc Id Source(s)
GWAS Catalog GCST001579 GWAS Catalog

RGD Curation Notes
Note Type Note Reference