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rs10483727

From SNPedia

Orientationplus
Stabilizedplus
Make rs10483727(C;C)
Make rs10483727(C;T)
Make rs10483727(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position60606157
GeneLOC105378189
is asnp
is mentioned by
dbSNPrs10483727
dbSNP (classic)rs10483727
ClinGenrs10483727
ebirs10483727
HLIrs10483727
Exacrs10483727
Gnomadrs10483727
Varsomers10483727
LitVarrs10483727
Maprs10483727
PheGenIrs10483727
Biobankrs10483727
1000 genomesrs10483727
hgdprs10483727
ensemblrs10483727
geneviewrs10483727
scholarrs10483727
googlers10483727
pharmgkbrs10483727
gwascentralrs10483727
openSNPrs10483727
23andMers10483727
SNPshotrs10483727
SNPdbers10483727
MSV3drs10483727
GWAS Ctlgrs10483727
GMAF0.3857
Max Magnitude0
? (C;C) (C;T) (T;T) 28


GWAS snp
PMID [PMID 20395239OA-icon.png]
Trait Optic disc size (rim)
Title Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
Risk Allele C
P-val 0.000009
Odds Ratio 0.15 [0.06-0.24] unit increase
GWAS snp
PMID [PMID 20548946OA-icon.png]
Trait Vertical cup-disc ratio
Title A genome-wide association study of optic disc parameters
Risk Allele T
P-val 1E-11
Odds Ratio 0.01 [0.008-0.016] mm2 increase


[PMID 21398277OA-icon.png] Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population


[PMID 22584021] Association between Genetic Variants Associated with Vertical Cup-to-Disc Ratio and Phenotypic Features of Primary Open-Angle Glaucoma

GWAS snp
PMID [PMID 22570617OA-icon.png]
Trait
Title Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.
Risk Allele A
P-val 4E-11
Odds Ratio 1.3200 None
GWAS snp
PMID [PMID 22419738]
Trait
Title A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
Risk Allele T
P-val 9E-8
Odds Ratio 1.2700 None


[PMID 22840486] Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.


[PMID 25849520OA-icon.png] Quantitative Trait Locus Analysis of SIX1-SIX6 With Retinal Nerve Fiber Layer Thickness in Individuals of European Descent


[PMID 25711633] Genetic Variants Associated With Different Risks for High Tension Glaucoma and Normal Tension Glaucoma in a Chinese Population


[PMID 28717659OA-icon.png] Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucoma.


[PMID 32933932] Genetic analysis of primary open-angle glaucoma-related risk alleles in a Korean population: the GLAU-GENDISK study.