rs797044901
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs797044901(A;A) |
| Make rs797044901(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 14 |
| Position | 102002694 |
| Gene | DYNC1H1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797044901 |
| dbSNP (classic) | rs797044901 |
| ClinGen | rs797044901 |
| ebi | rs797044901 |
| HLI | rs797044901 |
| Exac | rs797044901 |
| Gnomad | rs797044901 |
| Varsome | rs797044901 |
| LitVar | rs797044901 |
| Map | rs797044901 |
| PheGenI | rs797044901 |
| Biobank | rs797044901 |
| 1000 genomes | rs797044901 |
| hgdp | rs797044901 |
| ensembl | rs797044901 |
| geneview | rs797044901 |
| scholar | rs797044901 |
| rs797044901 | |
| pharmgkb | rs797044901 |
| gwascentral | rs797044901 |
| openSNP | rs797044901 |
| 23andMe | rs797044901 |
| SNPshot | rs797044901 |
| SNPdbe | rs797044901 |
| MSV3d | rs797044901 |
| GWAS Ctlg | rs797044901 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797044901(A;A) rs797044901(T;T) |
| Alt | rs797044901(A;A) rs797044901(T;T) |
| Reference | Rs797044901(G;G) |
| Significance | Pathogenic |
| Disease | Inborn genetic diseases not provided Mental retardation |
| Variation | info |
| Gene | DYNC1H1 |
| CLNDBN | Inborn genetic diseases not provided Mental retardation, autosomal dominant 13 |
| Reversed | 0 |
| HGVS | NC_000014.8:g.102469031G>A; NC_000014.8:g.102469031G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000190726.1, RCV000236127.1, RCV000196858.1, |
