rs267606968
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs267606968(G;T) |
| Make rs267606968(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 77285520 |
| Gene | POMT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267606968 |
| dbSNP (classic) | rs267606968 |
| ClinGen | rs267606968 |
| ebi | rs267606968 |
| HLI | rs267606968 |
| Exac | rs267606968 |
| Gnomad | rs267606968 |
| Varsome | rs267606968 |
| LitVar | rs267606968 |
| Map | rs267606968 |
| PheGenI | rs267606968 |
| Biobank | rs267606968 |
| 1000 genomes | rs267606968 |
| hgdp | rs267606968 |
| ensembl | rs267606968 |
| geneview | rs267606968 |
| scholar | rs267606968 |
| rs267606968 | |
| pharmgkb | rs267606968 |
| gwascentral | rs267606968 |
| openSNP | rs267606968 |
| 23andMe | rs267606968 |
| SNPshot | rs267606968 |
| SNPdbe | rs267606968 |
| MSV3d | rs267606968 |
| GWAS Ctlg | rs267606968 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267606968(T;T) |
| Alt | rs267606968(T;T) |
| Reference | Rs267606968(G;G) |
| Significance | Pathogenic |
| Disease | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies |
| Variation | info |
| Gene | POMT2 |
| CLNDBN | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 |
| Reversed | 1 |
| HGVS | NC_000014.8:g.77751863C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003392.4, |
