rs121918356
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121918356(C;T) |
| Make rs121918356(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 74611614 |
| Gene | LOC101928352, LTBP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918356 |
| dbSNP (classic) | rs121918356 |
| ClinGen | rs121918356 |
| ebi | rs121918356 |
| HLI | rs121918356 |
| Exac | rs121918356 |
| Gnomad | rs121918356 |
| Varsome | rs121918356 |
| LitVar | rs121918356 |
| Map | rs121918356 |
| PheGenI | rs121918356 |
| Biobank | rs121918356 |
| 1000 genomes | rs121918356 |
| hgdp | rs121918356 |
| ensembl | rs121918356 |
| geneview | rs121918356 |
| scholar | rs121918356 |
| rs121918356 | |
| pharmgkb | rs121918356 |
| gwascentral | rs121918356 |
| openSNP | rs121918356 |
| 23andMe | rs121918356 |
| SNPshot | rs121918356 |
| SNPdbe | rs121918356 |
| MSV3d | rs121918356 |
| GWAS Ctlg | rs121918356 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918356(T;T) |
| Alt | rs121918356(T;T) |
| Reference | Rs121918356(C;C) |
| Significance | Pathogenic |
| Disease | Glaucoma 3 |
| Variation | info |
| Gene | LTBP2 LOC101928352 |
| CLNDBN | Glaucoma 3, primary congenital, d |
| Reversed | 1 |
| HGVS | NC_000014.8:g.75078317G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007993.2, |
