rs1057518866
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057518866(G;G) |
Make rs1057518866(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 32343174 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs1057518866 |
dbSNP (classic) | rs1057518866 |
ClinGen | rs1057518866 |
ebi | rs1057518866 |
HLI | rs1057518866 |
Exac | rs1057518866 |
Gnomad | rs1057518866 |
Varsome | rs1057518866 |
LitVar | rs1057518866 |
Map | rs1057518866 |
PheGenI | rs1057518866 |
Biobank | rs1057518866 |
1000 genomes | rs1057518866 |
hgdp | rs1057518866 |
ensembl | rs1057518866 |
geneview | rs1057518866 |
scholar | rs1057518866 |
rs1057518866 | |
pharmgkb | rs1057518866 |
gwascentral | rs1057518866 |
openSNP | rs1057518866 |
23andMe | rs1057518866 |
SNPshot | rs1057518866 |
SNPdbe | rs1057518866 |
MSV3d | rs1057518866 |
GWAS Ctlg | rs1057518866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518866(G;G) |
Alt | rs1057518866(G;G) |
Reference | Rs1057518866(T;T) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | DMD |
CLNDBN | Myopathy |
Reversed | 1 |
HGVS | NC_000023.10:g.32361291A>C |
CLNSRC | |
CLNACC | RCV000415086.1, |