rs1346
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
open-angle glaucoma
Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele A
OR 0.11
p 8.0e-29
N 432,017
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.06
p 4.0e-16
N 612,895
Major Consortium StudyLarge GWAS
multi-ancestry
Gharahkhani P et al. “Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.” Nature Communications 12(1):1258 (2021)
Allele A
OR —
β 0.076
p 4.0e-16
N 383,500
Meta-analysisLarge GWAS
multi-ancestry
aspartate aminotransferase to alanine aminotransferase ratio
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 9.0e-16
N 389,315
Major Consortium StudyLarge GWAS
European
HbA1c measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.03
p 3.0e-15
N 338,640
Major Consortium StudyLarge GWAS
European
diabetic eye disease
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.07
p 1.0e-13
N 431,357
Major Consortium StudyLarge GWAS
European
optic disc size trait
Springelkamp H et al. “Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.” Nature Communications 5:4883 (2014)
Allele T
OR 0.01
p 5.0e-13
N 21,094
Meta-analysisLarge GWAS
multi-ancestry
optic cup area
Springelkamp H et al. “New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.” Human Molecular Genetics 26(2):438-453 (2017)
Allele T
OR 0.02
p 2.0e-12
N 22,484
Large GWAS
multi-ancestry
Springelkamp H et al. “Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.” Genetic Epidemiology 39(3):207-16 (2015)
Allele T
OR 0.02
p 2.0e-9
N 17,218
Meta-analysisLarge GWAS
multi-ancestry
hemoglobin measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.02
p 2.0e-11
N 407,894
Major Consortium StudyLarge GWAS
European
QT interval
Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.02
p 5.0e-10
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
cup-to-disc ratio measurement
Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)
Allele T
OR 0.01
p 1.0e-13
N 67,040
Large GWAS
European
Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele T
OR 0.01
p 5.0e-14
N 25,180
Large GWAS
European
Springelkamp H et al. “New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.” Human Molecular Genetics 26(2):438-453 (2017)
Allele T
OR 0.01
p 3.0e-17
N 23,899
Large GWAS
multi-ancestry
JT interval
Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.03
p 2.0e-11
N 212,199
Large GWAS
European
▶Research that mentions this SNP (1)
▶lncRNA Neat1 Stimulates Osteoclastogenesis Via Sponging miR-7FunctionalN=426,824Yan Zhang et al.(2020)· Journal of Bone and Mineral Research
lncRNA Neat1 Stimulates Osteoclastogenesis Via Sponging miR-7
FunctionalN=426,824Yan Zhang et al.(2020)· Journal of Bone and Mineral Research
This functional study establishes that the long noncoding RNA NEAT1 stimulates osteoclastogenesis via sponging miR-7, relieving inhibition of PTK2 expression. A distal GWAS SNP rs12789028 functions as an allele-specific enhancer regulating NEAT1 expression; the G-allele increases NEAT1 expression leading to enhanced bone resorption and osteoporosis risk. The mechanism links a NEAT1 locus variant to bone mineral density through lncRNA-mediated osteoclastogenesis.
Traits studied:Bone mineral densityBone resorptionOsteoclastogenesisOsteoporosis
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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