rs762250680
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs762250680(C;C) |
Make rs762250680(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 32365175 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs762250680 |
dbSNP (classic) | rs762250680 |
ClinGen | rs762250680 |
ebi | rs762250680 |
HLI | rs762250680 |
Exac | rs762250680 |
Gnomad | rs762250680 |
Varsome | rs762250680 |
LitVar | rs762250680 |
Map | rs762250680 |
PheGenI | rs762250680 |
Biobank | rs762250680 |
1000 genomes | rs762250680 |
hgdp | rs762250680 |
ensembl | rs762250680 |
geneview | rs762250680 |
scholar | rs762250680 |
rs762250680 | |
pharmgkb | rs762250680 |
gwascentral | rs762250680 |
openSNP | rs762250680 |
23andMe | rs762250680 |
SNPshot | rs762250680 |
SNPdbe | rs762250680 |
MSV3d | rs762250680 |
GWAS Ctlg | rs762250680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762250680(A;A) rs762250680(C;C) |
Alt | rs762250680(A;A) rs762250680(C;C) |
Reference | Rs762250680(G;G) |
Significance | Pathogenic |
Disease | Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy |
Reversed | 0 |
HGVS | NC_000023.10:g.32383292G>A |
CLNSRC | |
CLNACC | RCV000229831.2, |