rs1064325
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1064325(A;A) |
| Make rs1064325(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 32345999 |
| Gene | DMD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1064325 |
| dbSNP (classic) | rs1064325 |
| ClinGen | rs1064325 |
| ebi | rs1064325 |
| HLI | rs1064325 |
| Exac | rs1064325 |
| Gnomad | rs1064325 |
| Varsome | rs1064325 |
| LitVar | rs1064325 |
| Map | rs1064325 |
| PheGenI | rs1064325 |
| Biobank | rs1064325 |
| 1000 genomes | rs1064325 |
| hgdp | rs1064325 |
| ensembl | rs1064325 |
| geneview | rs1064325 |
| scholar | rs1064325 |
| rs1064325 | |
| pharmgkb | rs1064325 |
| gwascentral | rs1064325 |
| openSNP | rs1064325 |
| 23andMe | rs1064325 |
| SNPshot | rs1064325 |
| SNPdbe | rs1064325 |
| MSV3d | rs1064325 |
| GWAS Ctlg | rs1064325 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1064325(A;A) rs1064325(T;T) |
| Alt | rs1064325(A;A) rs1064325(T;T) |
| Reference | Rs1064325(C;C) |
| Significance | Pathogenic |
| Disease | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not specified |
| Variation | info |
| Gene | DMD |
| CLNDBN | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy not specified |
| Reversed | 1 |
| HGVS | NC_000023.10:g.32364116G>A; NC_000023.10:g.32364116G>T |
| CLNSRC | HGMD |
| CLNACC | RCV000080659.4, RCV000178000.1, RCV000178001.1, RCV000355492.1, |
