rs5030730
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs5030730(C;T) |
Make rs5030730(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 32438372 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs5030730 |
dbSNP (classic) | rs5030730 |
ClinGen | rs5030730 |
ebi | rs5030730 |
HLI | rs5030730 |
Exac | rs5030730 |
Gnomad | rs5030730 |
Varsome | rs5030730 |
LitVar | rs5030730 |
Map | rs5030730 |
PheGenI | rs5030730 |
Biobank | rs5030730 |
1000 genomes | rs5030730 |
hgdp | rs5030730 |
ensembl | rs5030730 |
geneview | rs5030730 |
scholar | rs5030730 |
rs5030730 | |
pharmgkb | rs5030730 |
gwascentral | rs5030730 |
openSNP | rs5030730 |
23andMe | rs5030730 |
SNPshot | rs5030730 |
SNPdbe | rs5030730 |
MSV3d | rs5030730 |
GWAS Ctlg | rs5030730 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs5030730(T;T) |
Alt | rs5030730(T;T) |
Reference | Rs5030730(C;C) |
Significance | Pathogenic |
Disease | Becker muscular dystrophy not provided Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Becker muscular dystrophy not provided Duchenne muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.32456489G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012034.17, RCV000183404.1, RCV000201024.1, |