rs104894797
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.2 | Dilated cardiomyopathy |
(T;T) | 6.2 | Dilated cardiomyopathy |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 31206663 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs104894797 |
dbSNP (classic) | rs104894797 |
ClinGen | rs104894797 |
ebi | rs104894797 |
HLI | rs104894797 |
Exac | rs104894797 |
Gnomad | rs104894797 |
Varsome | rs104894797 |
LitVar | rs104894797 |
Map | rs104894797 |
PheGenI | rs104894797 |
Biobank | rs104894797 |
1000 genomes | rs104894797 |
hgdp | rs104894797 |
ensembl | rs104894797 |
geneview | rs104894797 |
scholar | rs104894797 |
rs104894797 | |
pharmgkb | rs104894797 |
gwascentral | rs104894797 |
openSNP | rs104894797 |
23andMe | rs104894797 |
SNPshot | rs104894797 |
SNPdbe | rs104894797 |
MSV3d | rs104894797 |
GWAS Ctlg | rs104894797 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | Rs104894797(T;T) |
Alt | Rs104894797(T;T) |
Reference | Rs104894797(C;C) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.31224780G>A |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000012033.19, RCV000150055.4, RCV000179664.1, |