rs1060502619
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GG;GG) | 0 | common in clinvar |
Make rs1060502619(AA;AA) |
Make rs1060502619(AA;GG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 31496944 |
Gene | DMD |
is a | snp |
is | mentioned by |
dbSNP | rs1060502619 |
dbSNP (classic) | rs1060502619 |
ClinGen | rs1060502619 |
ebi | rs1060502619 |
HLI | rs1060502619 |
Exac | rs1060502619 |
Gnomad | rs1060502619 |
Varsome | rs1060502619 |
LitVar | rs1060502619 |
Map | rs1060502619 |
PheGenI | rs1060502619 |
Biobank | rs1060502619 |
1000 genomes | rs1060502619 |
hgdp | rs1060502619 |
ensembl | rs1060502619 |
geneview | rs1060502619 |
scholar | rs1060502619 |
rs1060502619 | |
pharmgkb | rs1060502619 |
gwascentral | rs1060502619 |
openSNP | rs1060502619 |
23andMe | rs1060502619 |
SNPshot | rs1060502619 |
SNPdbe | rs1060502619 |
MSV3d | rs1060502619 |
GWAS Ctlg | rs1060502619 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060502619(AA;AA) |
Alt | rs1060502619(AA;AA) |
Reference | Rs1060502619(GG;GG) |
Significance | Probable-Pathogenic |
Disease | Duchenne muscular dystrophy |
Variation | info |
Gene | DMD |
CLNDBN | Duchenne muscular dystrophy |
Reversed | 1 |
HGVS | NC_000023.10:g.31515061_31515062delCCinsTT |
CLNSRC | |
CLNACC | RCV000464014.1, |