rs727503802
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727503802(G;T) |
Make rs727503802(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 31478363 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs727503802 |
dbSNP (classic) | rs727503802 |
ClinGen | rs727503802 |
ebi | rs727503802 |
HLI | rs727503802 |
Exac | rs727503802 |
Gnomad | rs727503802 |
Varsome | rs727503802 |
LitVar | rs727503802 |
Map | rs727503802 |
PheGenI | rs727503802 |
Biobank | rs727503802 |
1000 genomes | rs727503802 |
hgdp | rs727503802 |
ensembl | rs727503802 |
geneview | rs727503802 |
scholar | rs727503802 |
rs727503802 | |
pharmgkb | rs727503802 |
gwascentral | rs727503802 |
openSNP | rs727503802 |
23andMe | rs727503802 |
SNPshot | rs727503802 |
SNPdbe | rs727503802 |
MSV3d | rs727503802 |
GWAS Ctlg | rs727503802 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503802(T;T) |
Alt | rs727503802(T;T) |
Reference | Rs727503802(G;G) |
Significance | Pathogenic |
Disease | Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B |
Variation | info |
Gene | DMD |
CLNDBN | Becker muscular dystrophy Duchenne muscular dystrophy Dilated cardiomyopathy 3B |
Reversed | 1 |
HGVS | NC_000023.10:g.31496480C>A |
CLNSRC | HGMD |
CLNACC | RCV000152766.4, RCV000152767.4, RCV000152768.4, |