rs1057518834
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057518834(-;-) |
Make rs1057518834(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 32849737 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs1057518834 |
dbSNP (classic) | rs1057518834 |
ClinGen | rs1057518834 |
ebi | rs1057518834 |
HLI | rs1057518834 |
Exac | rs1057518834 |
Gnomad | rs1057518834 |
Varsome | rs1057518834 |
LitVar | rs1057518834 |
Map | rs1057518834 |
PheGenI | rs1057518834 |
Biobank | rs1057518834 |
1000 genomes | rs1057518834 |
hgdp | rs1057518834 |
ensembl | rs1057518834 |
geneview | rs1057518834 |
scholar | rs1057518834 |
rs1057518834 | |
pharmgkb | rs1057518834 |
gwascentral | rs1057518834 |
openSNP | rs1057518834 |
23andMe | rs1057518834 |
SNPshot | rs1057518834 |
SNPdbe | rs1057518834 |
MSV3d | rs1057518834 |
GWAS Ctlg | rs1057518834 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518834(-;-) |
Alt | rs1057518834(-;-) |
Reference | Rs1057518834(G;G) |
Significance | Probable-Pathogenic |
Disease | Decreased body weight EMG: myopathic abnormalities Exercise-induced muscle cramps Exercise-induced muscle fatigue Exercise-induced muscle stiffness Exercise-induced myalgia Exercise-induced rhabdomyolysis Myopathy Short stature |
Variation | info |
Gene | DMD |
CLNDBN | Decreased body weight EMG: myopathic abnormalities Exercise-induced muscle cramps Exercise-induced muscle fatigue Exercise-induced muscle stiffness Exercise-induced myalgia Exercise-induced rhabdomyolysis Myopathy Short stature |
Reversed | 1 |
HGVS | NC_000023.10:g.32867854delC |
CLNSRC | |
CLNACC | RCV000414800.1, |