rs587776707
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs587776707(-;CC) |
| Make rs587776707(CC;CC) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 14 |
| Position | 36517812 |
| Gene | NKX2-1, NKX2-1-AS1, SFTA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776707 |
| dbSNP (classic) | rs587776707 |
| ClinGen | rs587776707 |
| ebi | rs587776707 |
| HLI | rs587776707 |
| Exac | rs587776707 |
| Gnomad | rs587776707 |
| Varsome | rs587776707 |
| LitVar | rs587776707 |
| Map | rs587776707 |
| PheGenI | rs587776707 |
| Biobank | rs587776707 |
| 1000 genomes | rs587776707 |
| hgdp | rs587776707 |
| ensembl | rs587776707 |
| geneview | rs587776707 |
| scholar | rs587776707 |
| rs587776707 | |
| pharmgkb | rs587776707 |
| gwascentral | rs587776707 |
| openSNP | rs587776707 |
| 23andMe | rs587776707 |
| SNPshot | rs587776707 |
| SNPdbe | rs587776707 |
| MSV3d | rs587776707 |
| GWAS Ctlg | rs587776707 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587776707(CC;CC) |
| Alt | rs587776707(CC;CC) |
| Reference | Rs587776707(-;-) |
| Significance | Pathogenic |
| Disease | Choreoathetosis |
| Variation | info |
| Gene | NKX2-1-AS1 SFTA3 NKX2-1 |
| CLNDBN | Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
| Reversed | 0 |
| HGVS | NC_000014.8:g.36987016_36987017dupCC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009540.3, |
