rs762394978
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs762394978(C;G) |
Make rs762394978(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 31679492 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs762394978 |
dbSNP (classic) | rs762394978 |
ClinGen | rs762394978 |
ebi | rs762394978 |
HLI | rs762394978 |
Exac | rs762394978 |
Gnomad | rs762394978 |
Varsome | rs762394978 |
LitVar | rs762394978 |
Map | rs762394978 |
PheGenI | rs762394978 |
Biobank | rs762394978 |
1000 genomes | rs762394978 |
hgdp | rs762394978 |
ensembl | rs762394978 |
geneview | rs762394978 |
scholar | rs762394978 |
rs762394978 | |
pharmgkb | rs762394978 |
gwascentral | rs762394978 |
openSNP | rs762394978 |
23andMe | rs762394978 |
SNPshot | rs762394978 |
SNPdbe | rs762394978 |
MSV3d | rs762394978 |
GWAS Ctlg | rs762394978 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762394978(G;G) rs762394978(T;T) |
Alt | rs762394978(G;G) rs762394978(T;T) |
Reference | Rs762394978(C;C) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy |
Reversed | 0 |
HGVS | NC_000023.10:g.31697609C>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201144.1, |