rs119462985
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs119462985(C;T) |
| Make rs119462985(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 131518945 |
| Gene | LOC105376301, POMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119462985 |
| dbSNP (classic) | rs119462985 |
| ClinGen | rs119462985 |
| ebi | rs119462985 |
| HLI | rs119462985 |
| Exac | rs119462985 |
| Gnomad | rs119462985 |
| Varsome | rs119462985 |
| LitVar | rs119462985 |
| Map | rs119462985 |
| PheGenI | rs119462985 |
| Biobank | rs119462985 |
| 1000 genomes | rs119462985 |
| hgdp | rs119462985 |
| ensembl | rs119462985 |
| geneview | rs119462985 |
| scholar | rs119462985 |
| rs119462985 | |
| pharmgkb | rs119462985 |
| gwascentral | rs119462985 |
| openSNP | rs119462985 |
| 23andMe | rs119462985 |
| SNPshot | rs119462985 |
| SNPdbe | rs119462985 |
| MSV3d | rs119462985 |
| GWAS Ctlg | rs119462985 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119462985(G;G) rs119462985(T;T) |
| Alt | rs119462985(G;G) rs119462985(T;T) |
| Reference | Rs119462985(C;C) |
| Significance | Pathogenic |
| Disease | Congenital muscular dystrophy-dystroglycanopathy with mental retardation not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| Variation | info |
| Gene | POMT1 |
| CLNDBN | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.134394332C>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000003401.3, RCV000153046.2, RCV000174912.1, |
