rs878853129
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs878853129(C;C) |
| Make rs878853129(C;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 13 |
| Position | 101103179 |
| Gene | NALCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs878853129 |
| dbSNP (classic) | rs878853129 |
| ClinGen | rs878853129 |
| ebi | rs878853129 |
| HLI | rs878853129 |
| Exac | rs878853129 |
| Gnomad | rs878853129 |
| Varsome | rs878853129 |
| LitVar | rs878853129 |
| Map | rs878853129 |
| PheGenI | rs878853129 |
| Biobank | rs878853129 |
| 1000 genomes | rs878853129 |
| hgdp | rs878853129 |
| ensembl | rs878853129 |
| geneview | rs878853129 |
| scholar | rs878853129 |
| rs878853129 | |
| pharmgkb | rs878853129 |
| gwascentral | rs878853129 |
| openSNP | rs878853129 |
| 23andMe | rs878853129 |
| SNPshot | rs878853129 |
| SNPdbe | rs878853129 |
| MSV3d | rs878853129 |
| GWAS Ctlg | rs878853129 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs878853129(C;C) |
| Alt | rs878853129(C;C) |
| Reference | Rs878853129(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.101755530A>G |
| CLNSRC | |
| CLNACC | RCV000224534.1, |
