rs1192415
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs1192415(A;A) |
| Make rs1192415(A;G) |
| Make rs1192415(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 91611540 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1192415 |
| dbSNP (classic) | rs1192415 |
| ClinGen | rs1192415 |
| ebi | rs1192415 |
| HLI | rs1192415 |
| Exac | rs1192415 |
| Gnomad | rs1192415 |
| Varsome | rs1192415 |
| LitVar | rs1192415 |
| Map | rs1192415 |
| PheGenI | rs1192415 |
| Biobank | rs1192415 |
| 1000 genomes | rs1192415 |
| hgdp | rs1192415 |
| ensembl | rs1192415 |
| geneview | rs1192415 |
| scholar | rs1192415 |
| rs1192415 | |
| pharmgkb | rs1192415 |
| gwascentral | rs1192415 |
| openSNP | rs1192415 |
| 23andMe | rs1192415 |
| SNPshot | rs1192415 |
| SNPdbe | rs1192415 |
| MSV3d | rs1192415 |
| GWAS Ctlg | rs1192415 |
| GMAF | 0.1938 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20395239 ]
|
| Trait | Optic disc size (disc) |
| Title | Genome-wide association identifies ATOH7 as a major gene determining human optic disc size |
| Risk Allele | A |
| P-val | 3E-7 |
| Odds Ratio | 0.25 [0.14-0.35] unit decrease |
| GWAS snp | |
|---|---|
| PMID | [PMID 20548946]
|
| Trait | Optic disc parameters |
| Title | A genome-wide association study of optic disc parameters |
| Risk Allele | G |
| P-val | 3E-28 |
| Odds Ratio | 0.06 [0.05-0.07] mm increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 21307088] |
| Trait | |
| Title | Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area |
| Risk Allele | G |
| P-val | 8E-17 |
| Odds Ratio | 0.0959 [NR] mm2 increase |
[PMID 25861811] A common variant near TGFBR3 is associated with primary open angle glaucoma
[PMID 26383992] A Genetic Variant in TGFBR3-CDC7 Is Associated with Visual Field Progression in Primary Open-Angle Glaucoma Patients from Singapore
