rs128626235
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs128626235(C;T) |
Make rs128626235(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32816565 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs128626235 |
dbSNP (classic) | rs128626235 |
ClinGen | rs128626235 |
ebi | rs128626235 |
HLI | rs128626235 |
Exac | rs128626235 |
Gnomad | rs128626235 |
Varsome | rs128626235 |
LitVar | rs128626235 |
Map | rs128626235 |
PheGenI | rs128626235 |
Biobank | rs128626235 |
1000 genomes | rs128626235 |
hgdp | rs128626235 |
ensembl | rs128626235 |
geneview | rs128626235 |
scholar | rs128626235 |
rs128626235 | |
pharmgkb | rs128626235 |
gwascentral | rs128626235 |
openSNP | rs128626235 |
23andMe | rs128626235 |
SNPshot | rs128626235 |
SNPdbe | rs128626235 |
MSV3d | rs128626235 |
GWAS Ctlg | rs128626235 |
GMAF | 0.0 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs128626235(A;A) rs128626235(T;T) |
Alt | rs128626235(A;A) rs128626235(T;T) |
Reference | Rs128626235(C;C) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy Dilated cardiomyopathy 3B not provided Becker muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy Dilated cardiomyopathy 3B not provided Becker muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.32834682G>A |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000011976.14, RCV000150071.3, RCV000255815.1, RCV000372774.1, |