rs863225003
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAA;AGAA) | 0 | common in clinvar |
Make rs863225003(-;-) |
Make rs863225003(-;AGAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 32343268 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs863225003 |
dbSNP (classic) | rs863225003 |
ClinGen | rs863225003 |
ebi | rs863225003 |
HLI | rs863225003 |
Exac | rs863225003 |
Gnomad | rs863225003 |
Varsome | rs863225003 |
LitVar | rs863225003 |
Map | rs863225003 |
PheGenI | rs863225003 |
Biobank | rs863225003 |
1000 genomes | rs863225003 |
hgdp | rs863225003 |
ensembl | rs863225003 |
geneview | rs863225003 |
scholar | rs863225003 |
rs863225003 | |
pharmgkb | rs863225003 |
gwascentral | rs863225003 |
openSNP | rs863225003 |
23andMe | rs863225003 |
SNPshot | rs863225003 |
SNPdbe | rs863225003 |
MSV3d | rs863225003 |
GWAS Ctlg | rs863225003 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225003(-;-) |
Alt | rs863225003(-;-) |
Reference | Rs863225003(AGAA;AGAA) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy Becker muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy Becker muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.32361385_32361388delTTCT |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201033.2, RCV000401031.1, |