rs866141540
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TG;TG) | 0 | common in clinvar |
| Make rs866141540(-;-) |
| Make rs866141540(-;GT) |
| Make rs866141540(GT;GT) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 20 |
| Position | 6096996 |
| Gene | FERMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs866141540 |
| dbSNP (classic) | rs866141540 |
| ClinGen | rs866141540 |
| ebi | rs866141540 |
| HLI | rs866141540 |
| Exac | rs866141540 |
| Gnomad | rs866141540 |
| Varsome | rs866141540 |
| LitVar | rs866141540 |
| Map | rs866141540 |
| PheGenI | rs866141540 |
| Biobank | rs866141540 |
| 1000 genomes | rs866141540 |
| hgdp | rs866141540 |
| ensembl | rs866141540 |
| geneview | rs866141540 |
| scholar | rs866141540 |
| rs866141540 | |
| pharmgkb | rs866141540 |
| gwascentral | rs866141540 |
| openSNP | rs866141540 |
| 23andMe | rs866141540 |
| SNPshot | rs866141540 |
| SNPdbe | rs866141540 |
| MSV3d | rs866141540 |
| GWAS Ctlg | rs866141540 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs866141540(-;-) |
| Alt | rs866141540(-;-) |
| Reference | Rs866141540(TG;TG) |
| Significance | Pathogenic |
| Disease | Kindler's syndrome |
| Variation | info |
| Gene | FERMT1 |
| CLNDBN | Kindler's syndrome |
| Reversed | 0 |
| HGVS | NC_000020.10:g.6077643_6077644delTG |
| CLNSRC | |
| CLNACC | RCV000209882.1, |
