GWAS1176109_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1176109_H (Red cell distribution width QTL GWAS1176109 (human)) Homo sapiens

Symbol: GWAS1176109_H
Name: Red cell distribution width QTL GWAS1176109 (human)
RGD ID: 597080035
Trait: Red cell distribution width
Measurement Type: red blood cell distribution width- standard deviation   (CMO:0003232)    
red blood cell distribution width-coefficient of variation   (CMO:0000041)    
LOD Score: Not Available
P Value: 4.0E-61
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3813,774,964 - 3,774,965RGD_MAPPER_PIPELINEGRCh38
GRCh3713,691,528 - 3,691,529RGD_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)
GWAS1176109_HHumanRed cell distribution width  IAGPrs1175550405850206 GWAS_CATALOGPMID:32888493

#
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
6767479SMIM1small integral membrane protein 1 (Vel blood group)137727493775956Human
156420132LOC128505377MPRA functional variant 1:3691528:A:G red blood cell enhancer137748683775012Human


Peak: (rs1175550)
Human AssemblyChrPosition (strand)Source
GRCh3813,774,964 - 3,774,965RGD_MAPPER_PIPELINE


1 to 10 of 54 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
406948163GWAS597139_Hhemoglobin measurement QTL GWAS597139 (human)1e-40hemoglobin measurementhemoglobin measurement (CMO:0000508)137749643774965Human
406968137GWAS617113_Hreticulocyte count QTL GWAS617113 (human)3e-34reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)137749643774965Human
597583636GWAS1640496_Hmean corpuscular hemoglobin concentration QTL GWAS1640496 (human)5e-117mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)137749643774965Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
597028376GWAS1124450_HRed cell distribution width QTL GWAS1124450 (human)2e-16Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)137749643774965Human
406993612GWAS642588_Hreticulocyte measurement QTL GWAS642588 (human)5e-72reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)137749643774965Human
597113240GWAS1209314_HRed cell distribution width QTL GWAS1209314 (human)4e-46Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)137749643774965Human
596978052GWAS1097571_HRed cell distribution width QTL GWAS1097571 (human)2e-16Red cell distribution width137749643774965Human
406957650GWAS606626_Hreticulocyte count QTL GWAS606626 (human)1e-49reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)137749643774965Human

1 to 10 of 54 rows


1 to 20 of 55 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
GWAS1176109_H GCST90002372 Red cell distribution width 563,352 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals A 0.762789 4E-61 60.398 rs1175550 N/A Red cell distribution width (EFO:0009188)
 PMID:32888493
GWAS1117948_H GCST004601 Red blood cell count 172,952 European ancestry individuals G 0.2321 9E-13 12.046 rs1175550 0.03013325 erythrocyte count (EFO:0004305)
 PMID:27863252
GWAS1637956_H GCST90479669 mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) 114,857 African American or Afro-Caribbean individuals, 55,793 Hispanic or Latin American individuals, 5,943 East Asian ancestry individuals, 407,343 European ancestry individuals A 0.7196 3E-105 104.523 rs1175550 0.0735 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:39024449
GWAS1640133_H GCST90479671 mean corpuscular hemoglobin concentration (MCHC, minimum, inv-norm transformed) 114,841 African American or Afro-Caribbean individuals, 55,798 Hispanic or Latin American individuals, 5,943 East Asian ancestry individuals, 407,301 European ancestry individuals A 0.7197 1E-77 77 rs1175550 0.06002 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:39024449
GWAS1640496_H GCST90479670 mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed) 114,851 African American or Afro-Caribbean individuals, 55,797 Hispanic or Latin American individuals, 5,942 East Asian ancestry individuals, 407,345 European ancestry individuals A 0.7196 5E-117 116.302 rs1175550 0.0792 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:39024449
GWAS1124450_H GCST006804 Red cell distribution width 116,666 British ancestry individuals G NR 2E-16 15.699 rs1175550 0.0366979 Red cell distribution width (EFO:0009188)
 PMID:28957414
GWAS595016_H GCST90002314 Hemoglobin concentration 746,431 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals G 0.238035 4E-38 37.398 rs1175550 N/A hemoglobin measurement (EFO:0004509)
 PMID:32888493
GWAS597139_H GCST90002310 Hemoglobin concentration 563,946 European ancestry individuals G 0.232052 1E-40 40 rs1175550 0.030902 hemoglobin measurement (EFO:0004509)
 PMID:32888493
GWAS1139182_H GCST007069 Red blood cell count approximately 445,000 European ancestry individuals ? NR 2E-30 29.699 rs1175550 N/A erythrocyte count (EFO:0004305)
 PMID:30595370
GWAS599913_H GCST004605 Mean corpuscular hemoglobin concentration 172,851 European ancestry individuals G 0.2321 1E-43 43 rs1175550 0.05686661 mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:27863252
GWAS606626_H GCST004611 High light scatter reticulocyte count 170,761 European ancestry individuals G 0.2319 1E-49 49 rs1175550 0.06299945 reticulocyte count (EFO:0007986)
 PMID:27863252
GWAS613252_H GCST004612 High light scatter reticulocyte percentage of red cells 170,763 European ancestry individuals G 0.2319 2E-43 42.699 rs1175550 0.05865731 reticulocyte count (EFO:0007986)
 PMID:27863252
GWAS613799_H GCST004622 Reticulocyte count 170,641 European ancestry individuals G 0.2319 2E-42 41.699 rs1175550 0.05803529 reticulocyte count (EFO:0007986)
 PMID:27863252
GWAS617113_H GCST004619 Reticulocyte fraction of red cells 170,690 European ancestry individuals G 0.2319 3E-34 33.523 rs1175550 0.05187558 reticulocyte count (EFO:0007986)
 PMID:27863252
GWAS621931_H GCST004628 Immature fraction of reticulocytes 170,548 European ancestry individuals G 0.2319 3E-27 26.523 rs1175550 0.04553773 reticulocyte count (EFO:0007986)
 PMID:27863252
GWAS634661_H GCST90002384 Hemoglobin 408,112 British individuals G 0.231502 2E-33 32.699 rs1175550 0.031965658 hemoglobin measurement (EFO:0004509)
 PMID:32888494
GWAS636407_H GCST90002332 Mean corpuscular hemoglobin concentration 642,173 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals G 0.238277 5E-119 118.302 rs1175550 N/A mean corpuscular hemoglobin concentration (EFO:0004528)
 PMID:32888493
GWAS637654_H GCST90002387 Immature fraction of reticulocytes 408,112 British individuals G 0.231553 1E-38 38 rs1175550 0.0348624 reticulocyte measurement (EFO:0010700)
 PMID:32888494
GWAS638339_H GCST90002385 High light scatter reticulocyte count 408,112 British individuals G 0.231517 8E-85 84.097 rs1175550 0.05204257 reticulocyte count (EFO:0007986)
 PMID:32888494
GWAS642588_H GCST90002386 High light scatter reticulocyte percentage of red cells 408,112 British individuals G 0.231511 5E-72 71.302 rs1175550 0.047862276 reticulocyte measurement (EFO:0010700)
 PMID:32888494
1 to 20 of 55 rows
Database
Acc Id
Source(s)
GWAS Catalog GCST90002372 GWAS Catalog

Note Type Note Reference