GWAS1323906_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1323906_H (eye colour measurement QTL GWAS1323906 (human)) Homo sapiens

Symbol: GWAS1323906_H
Name: eye colour measurement QTL GWAS1323906 (human)
RGD ID: 597227832
Trait: eye colour measurement
Measurement Type: eye morphological measurement   (CMO:0003080)    
LOD Score: Not Available
P Value: 8.0E-9
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh381548,134,287 - 48,134,288RGD_MAPPER_PIPELINEGRCh38
GRCh371548,426,484 - 48,426,485RGD_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)
GWAS1323906_HHumaneye morphological measurement  IAGPrs1426654405850206 GWAS_CATALOGPMID:30895295

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
GWAS1323906_HHumaneye colour measurement  IAGPrs1426654405850206 GWAS_CATALOGPMID:30895295

#
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
1321543SLC24A5solute carrier family 24 member 5154812099048142672Human


Peak: (rs1426654)
Human AssemblyChrPosition (strand)Source
GRCh381548,134,287 - 48,134,288RGD_MAPPER_PIPELINE


1 to 10 of 32 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
597607391GWAS1664251_Hskin neoplasm QTL GWAS1664251 (human)3e-18skin neoplasm154813428748134288Human
597043098GWAS1139172_Heye colour measurement QTL GWAS1139172 (human)8e-50eye colour measurementeye morphological measurement (CMO:0003080)154813428748134288Human
597587795GWAS1644655_Hbenign neoplasm of eye QTL GWAS1644655 (human)2e-24benign neoplasm of eye154813428748134288Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
407039379GWAS688355_Hbody mass index QTL GWAS688355 (human)0.0000008body mass indexbody mass index (BMI) (CMO:0000105)154813428748134288Human
407039376GWAS688352_Hbody mass index QTL GWAS688352 (human)0.0000004body mass indexbody mass index (BMI) (CMO:0000105)154813428748134288Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
597203597GWAS1299671_Heye color QTL GWAS1299671 (human)3e-26eye color154813428748134288Human
597591433GWAS1648293_Hactinic keratosis QTL GWAS1648293 (human)9e-23actinic keratosis154813428748134288Human
597608709GWAS1665569_Hbenign neoplasm of eye QTL GWAS1665569 (human)1e-39benign neoplasm of eye154813428748134288Human

1 to 10 of 32 rows


1 to 20 of 45 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
GWAS1323906_H GCST007741 Iris color (b* coordinate) 329 South Asian ancestry individuals G 0.15 8E-9 8.097 rs1426654 0.594 eye colour measurement (EFO:0009764)
 PMID:30895295
GWAS1699829_H GCST003479 Hair color 6,357 Latin American individuals ? NR 1E-18 18 rs1426654 N/A strand of hair color (OBA:0002313)
 PMID:26926045
GWAS1639363_H GCST90475577 Melanomas of skin, dx or hx (PheCode 172.1) 45,274 European ancestry cases, 389,597 European ancestry controls A 0.9958 5E-16 15.302 rs1426654 0.5821 cutaneous melanoma (EFO:0000389)
 PMID:39024449
GWAS1639569_H GCST90475580 Other non-epithelial cancer of skin (PheCode 172.2) 68,143 European ancestry cases, 360,898 European ancestry controls A 0.9958 1E-19 19 rs1426654 0.4954 skin neoplasm (EFO:0004198)
 PMID:39024449
GWAS1704328_H GCST90026564 Facial morphology (lip thickness 1) 6,169 Latin American individuals ? NR 0.000004 5.398 rs1426654 N/A lip morphology trait (OBA:VT0003769)
 PMID:33547071
GWAS1704330_H GCST90026568 Facial morphology (lower lip thickness 1) 6,169 Latin American individuals ? NR 0.000003 5.523 rs1426654 N/A lip morphology trait (OBA:VT0003769)
 PMID:33547071
GWAS1704558_H GCST90026556 Facial morphology (nose roundness 3) 6,169 Latin American individuals ? NR 2E-8 7.699 rs1426654 N/A nose morphology trait (OBA:VT0002233)
 PMID:33547071
GWAS1704579_H GCST90026560 Facial morphology (columella inclination) 6,169 Latin American individuals ? NR 7E-8 7.155 rs1426654 N/A nose morphology trait (OBA:VT0002233)
 PMID:33547071
None Available GCST90026570 Facial morphology (lower lip thickness 2) 6,169 Latin American individuals ? NR 0.000003 5.523 rs1426654 N/A lip morphology trait (OBA:VT0003769)
 PMID:33547071
GWAS1644295_H GCST90475575 Skin cancer 83,801 European ancestry cases, 347,397 European ancestry controls A 0.9958 7E-24 23.155 rs1426654 0.5014 PMID:39024449
GWAS1644636_H GCST90475625 Benign neoplasm of eye (PheCode 224) 1,240 African American or Afro-Caribbean cases, 119,408 African American or Afro-Caribbean controls A 0.1976 1E-18 18 rs1426654 0.4345 PMID:39024449
GWAS1644655_H GCST90475627 Benign neoplasm of eye, uveal (PheCode 224.1) 1,126 Hispanic or Latin American cases, 58,072 Hispanic or Latin American controls A 0.6538 2E-24 23.699 rs1426654 0.5882 PMID:39024449
GWAS1648293_H GCST90476204 Actinic keratosis (PheCode 702.1) 97,501 European ancestry cases, 314,618 European ancestry controls A 0.9958 9E-23 22.046 rs1426654 0.4451 actinic keratosis (EFO:0002496)
 PMID:39024449
GWAS1648338_H GCST90476203 Actinic keratosis (PheCode 702.1) 2,177 Hispanic or Latin American cases, 55,636 Hispanic or Latin American controls A 0.6513 4E-25 24.398 rs1426654 0.4904 actinic keratosis (EFO:0002496)
 PMID:39024449
GWAS1648401_H GCST90476202 Degenerative skin conditions and other dermatoses (PheCode 702) 133,983 European ancestry cases, 263,761 European ancestry controls A 0.9959 3E-14 13.523 rs1426654 0.2907 skin disease (EFO:0000701)
 PMID:39024449
GWAS1648461_H GCST90475868 Glaucoma 38,064 African American or Afro-Caribbean cases, 76,856 African American or Afro-Caribbean controls A 0.1983 2E-11 10.699 rs1426654 0.0815 PMID:39024449
GWAS1138950_H GCST007457 Eye color (saturation) 6,236 Latin American individuals ? NR 6E-45 44.222 rs1426654 N/A eye colour measurement (EFO:0009764)
 PMID:30664655
GWAS1139127_H GCST007453 Eye color 6,236 Latin American individuals ? NR 1E-26 26 rs1426654 N/A eye colour measurement (EFO:0009764)
 PMID:30664655
GWAS1139172_H GCST007455 Eye color (brightness) 6,236 Latin American individuals ? NR 8E-50 49.097 rs1426654 N/A eye colour measurement (EFO:0009764)
 PMID:30664655
GWAS1710875_H GCST005188 Skin pigmentation 216 Sub-Saharan African ancestry individuals ? 0.40 1E-8 8 rs1426654 3.58 skin pigmentation (OBA:VT0002095)
 PMID:29195075
1 to 20 of 45 rows
Database
Acc Id
Source(s)
GWAS Catalog GCST007741 GWAS Catalog

Note Type Note Reference