rs141392048
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs141392048(A;G) |
Make rs141392048(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 31204086 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs141392048 |
dbSNP (classic) | rs141392048 |
ClinGen | rs141392048 |
ebi | rs141392048 |
HLI | rs141392048 |
Exac | rs141392048 |
Gnomad | rs141392048 |
Varsome | rs141392048 |
LitVar | rs141392048 |
Map | rs141392048 |
PheGenI | rs141392048 |
Biobank | rs141392048 |
1000 genomes | rs141392048 |
hgdp | rs141392048 |
ensembl | rs141392048 |
geneview | rs141392048 |
scholar | rs141392048 |
rs141392048 | |
pharmgkb | rs141392048 |
gwascentral | rs141392048 |
openSNP | rs141392048 |
23andMe | rs141392048 |
SNPshot | rs141392048 |
SNPdbe | rs141392048 |
MSV3d | rs141392048 |
GWAS Ctlg | rs141392048 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141392048(G;G) |
Alt | rs141392048(G;G) |
Reference | Rs141392048(A;A) |
Significance | Other |
Disease | Dilated cardiomyopathy 3B Primary dilated cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy not specified Cardiovascular phenotype |
Variation | info |
Gene | DMD |
CLNDBN | Dilated cardiomyopathy 3B Primary dilated cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy not specified Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000023.10:g.31222203A>G |
CLNSRC | HGMD |
CLNACC | RCV000080855.4, RCV000148462.1, RCV000179672.1, RCV000179673.1, RCV000217993.1, RCV000250763.1, |