rs748769566
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs748769566(G;T) |
Make rs748769566(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | X |
Position | 32389536 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs748769566 |
dbSNP (classic) | rs748769566 |
ClinGen | rs748769566 |
ebi | rs748769566 |
HLI | rs748769566 |
Exac | rs748769566 |
Gnomad | rs748769566 |
Varsome | rs748769566 |
LitVar | rs748769566 |
Map | rs748769566 |
PheGenI | rs748769566 |
Biobank | rs748769566 |
1000 genomes | rs748769566 |
hgdp | rs748769566 |
ensembl | rs748769566 |
geneview | rs748769566 |
scholar | rs748769566 |
rs748769566 | |
pharmgkb | rs748769566 |
gwascentral | rs748769566 |
openSNP | rs748769566 |
23andMe | rs748769566 |
SNPshot | rs748769566 |
SNPdbe | rs748769566 |
MSV3d | rs748769566 |
GWAS Ctlg | rs748769566 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748769566(A;A) rs748769566(C;C) rs748769566(T;T) |
Alt | rs748769566(A;A) rs748769566(C;C) rs748769566(T;T) |
Reference | Rs748769566(G;G) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy |
Reversed | 0 |
HGVS | NC_000023.10:g.32407653G>A |
CLNSRC | |
CLNACC | RCV000387009.1, |