rs786203987
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs786203987(C;C) |
| Make rs786203987(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 13 |
| Position | 101229493 |
| Gene | NALCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786203987 |
| dbSNP (classic) | rs786203987 |
| ClinGen | rs786203987 |
| ebi | rs786203987 |
| HLI | rs786203987 |
| Exac | rs786203987 |
| Gnomad | rs786203987 |
| Varsome | rs786203987 |
| LitVar | rs786203987 |
| Map | rs786203987 |
| PheGenI | rs786203987 |
| Biobank | rs786203987 |
| 1000 genomes | rs786203987 |
| hgdp | rs786203987 |
| ensembl | rs786203987 |
| geneview | rs786203987 |
| scholar | rs786203987 |
| rs786203987 | |
| pharmgkb | rs786203987 |
| gwascentral | rs786203987 |
| openSNP | rs786203987 |
| 23andMe | rs786203987 |
| SNPshot | rs786203987 |
| SNPdbe | rs786203987 |
| MSV3d | rs786203987 |
| GWAS Ctlg | rs786203987 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786203987(C;C) |
| Alt | rs786203987(C;C) |
| Reference | Rs786203987(T;T) |
| Significance | Pathogenic |
| Disease | Congenital contractures of the limbs and face |
| Variation | info |
| Gene | NALCN |
| CLNDBN | Congenital contractures of the limbs and face, hypotonia, and developmental delay |
| Reversed | 1 |
| HGVS | NC_000013.10:g.101881844A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000167531.5, |
