rs128626249
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs128626249(C;T) |
Make rs128626249(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32342123 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs128626249 |
dbSNP (classic) | rs128626249 |
ClinGen | rs128626249 |
ebi | rs128626249 |
HLI | rs128626249 |
Exac | rs128626249 |
Gnomad | rs128626249 |
Varsome | rs128626249 |
LitVar | rs128626249 |
Map | rs128626249 |
PheGenI | rs128626249 |
Biobank | rs128626249 |
1000 genomes | rs128626249 |
hgdp | rs128626249 |
ensembl | rs128626249 |
geneview | rs128626249 |
scholar | rs128626249 |
rs128626249 | |
pharmgkb | rs128626249 |
gwascentral | rs128626249 |
openSNP | rs128626249 |
23andMe | rs128626249 |
SNPshot | rs128626249 |
SNPdbe | rs128626249 |
MSV3d | rs128626249 |
GWAS Ctlg | rs128626249 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs128626249(T;T) |
Alt | rs128626249(T;T) |
Reference | Rs128626249(C;C) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.32360240G>A |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000012009.13, RCV000150066.3, RCV000325394.1, |