rs128625230
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs128625230(C;T) |
Make rs128625230(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 31875331 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs128625230 |
dbSNP (classic) | rs128625230 |
ClinGen | rs128625230 |
ebi | rs128625230 |
HLI | rs128625230 |
Exac | rs128625230 |
Gnomad | rs128625230 |
Varsome | rs128625230 |
LitVar | rs128625230 |
Map | rs128625230 |
PheGenI | rs128625230 |
Biobank | rs128625230 |
1000 genomes | rs128625230 |
hgdp | rs128625230 |
ensembl | rs128625230 |
geneview | rs128625230 |
scholar | rs128625230 |
rs128625230 | |
pharmgkb | rs128625230 |
gwascentral | rs128625230 |
openSNP | rs128625230 |
23andMe | rs128625230 |
SNPshot | rs128625230 |
SNPdbe | rs128625230 |
MSV3d | rs128625230 |
GWAS Ctlg | rs128625230 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs128625230(T;T) |
Alt | rs128625230(T;T) |
Reference | Rs128625230(C;C) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.31893448G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011971.17, |