rs397515397
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs397515397(G;G) |
| Make rs397515397(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 16308521 |
| Gene | ISPD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515397 |
| dbSNP (classic) | rs397515397 |
| ClinGen | rs397515397 |
| ebi | rs397515397 |
| HLI | rs397515397 |
| Exac | rs397515397 |
| Gnomad | rs397515397 |
| Varsome | rs397515397 |
| LitVar | rs397515397 |
| Map | rs397515397 |
| PheGenI | rs397515397 |
| Biobank | rs397515397 |
| 1000 genomes | rs397515397 |
| hgdp | rs397515397 |
| ensembl | rs397515397 |
| geneview | rs397515397 |
| scholar | rs397515397 |
| rs397515397 | |
| pharmgkb | rs397515397 |
| gwascentral | rs397515397 |
| openSNP | rs397515397 |
| 23andMe | rs397515397 |
| SNPshot | rs397515397 |
| SNPdbe | rs397515397 |
| MSV3d | rs397515397 |
| GWAS Ctlg | rs397515397 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397515397(G;G) |
| Alt | rs397515397(G;G) |
| Reference | Rs397515397(T;T) |
| Significance | Pathogenic |
| Disease | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies |
| Variation | info |
| Gene | ISPD |
| CLNDBN | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.16348146A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024271.3, |
