rs201361100
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201361100(C;C) |
Make rs201361100(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 31478995 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs201361100 |
dbSNP (classic) | rs201361100 |
ClinGen | rs201361100 |
ebi | rs201361100 |
HLI | rs201361100 |
Exac | rs201361100 |
Gnomad | rs201361100 |
Varsome | rs201361100 |
LitVar | rs201361100 |
Map | rs201361100 |
PheGenI | rs201361100 |
Biobank | rs201361100 |
1000 genomes | rs201361100 |
hgdp | rs201361100 |
ensembl | rs201361100 |
geneview | rs201361100 |
scholar | rs201361100 |
rs201361100 | |
pharmgkb | rs201361100 |
gwascentral | rs201361100 |
openSNP | rs201361100 |
23andMe | rs201361100 |
SNPshot | rs201361100 |
SNPdbe | rs201361100 |
MSV3d | rs201361100 |
GWAS Ctlg | rs201361100 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201361100(A;A) rs201361100(C;C) |
Alt | rs201361100(A;A) rs201361100(C;C) |
Reference | Rs201361100(G;G) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Dilated cardiomyopathy 3B Becker muscular dystrophy Duchenne muscular dystrophy |
Reversed | 0 |
HGVS | NC_000023.10:g.31497112G>A |
CLNSRC | |
CLNACC | RCV000179207.1, RCV000179208.1, RCV000179209.1, |