rs1154233
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (G;G) | 0 | common in complete genomics |
| Make rs1154233(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 23931125 |
| Gene | LAMA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1154233 |
| dbSNP (classic) | rs1154233 |
| ClinGen | rs1154233 |
| ebi | rs1154233 |
| HLI | rs1154233 |
| Exac | rs1154233 |
| Gnomad | rs1154233 |
| Varsome | rs1154233 |
| LitVar | rs1154233 |
| Map | rs1154233 |
| PheGenI | rs1154233 |
| Biobank | rs1154233 |
| 1000 genomes | rs1154233 |
| hgdp | rs1154233 |
| ensembl | rs1154233 |
| geneview | rs1154233 |
| scholar | rs1154233 |
| rs1154233 | |
| pharmgkb | rs1154233 |
| gwascentral | rs1154233 |
| openSNP | rs1154233 |
| 23andMe | rs1154233 |
| SNPshot | rs1154233 |
| SNPdbe | rs1154233 |
| MSV3d | rs1154233 |
| GWAS Ctlg | rs1154233 |
| GMAF | 0 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs1154233(G;G) |
| Alt | Rs1154233(G;G) |
| Reference | Rs1154233(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Laryngoonychocutaneous syndrome Epidermolysis bullosa |
| Variation | info |
| Gene | LAMA3 |
| CLNDBN | not specified Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional |
| Reversed | 0 |
| HGVS | NC_000018.9:g.21511089A>G |
| CLNSRC | |
| CLNACC | RCV000242248.1, RCV000270352.1, RCV000383453.1, |
