rs754896795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs754896795(C;C) |
Make rs754896795(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 31875304 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs754896795 |
dbSNP (classic) | rs754896795 |
ClinGen | rs754896795 |
ebi | rs754896795 |
HLI | rs754896795 |
Exac | rs754896795 |
Gnomad | rs754896795 |
Varsome | rs754896795 |
LitVar | rs754896795 |
Map | rs754896795 |
PheGenI | rs754896795 |
Biobank | rs754896795 |
1000 genomes | rs754896795 |
hgdp | rs754896795 |
ensembl | rs754896795 |
geneview | rs754896795 |
scholar | rs754896795 |
rs754896795 | |
pharmgkb | rs754896795 |
gwascentral | rs754896795 |
openSNP | rs754896795 |
23andMe | rs754896795 |
SNPshot | rs754896795 |
SNPdbe | rs754896795 |
MSV3d | rs754896795 |
GWAS Ctlg | rs754896795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754896795(A;A) rs754896795(C;C) |
Alt | rs754896795(A;A) rs754896795(C;C) |
Reference | Rs754896795(T;T) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy Becker muscular dystrophy Dilated cardiomyopathy 3B |
Reversed | 0 |
HGVS | NC_000023.10:g.31893421T>A |
CLNSRC | |
CLNACC | RCV000178663.1, RCV000178664.1, RCV000178665.1, |