rs138058572
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138058572(A;A) |
Make rs138058572(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 7223993 |
Gene | ACADVL, MIR324 |
is a | snp |
is | mentioned by |
dbSNP | rs138058572 |
dbSNP (classic) | rs138058572 |
ClinGen | rs138058572 |
ebi | rs138058572 |
HLI | rs138058572 |
Exac | rs138058572 |
Gnomad | rs138058572 |
Varsome | rs138058572 |
LitVar | rs138058572 |
Map | rs138058572 |
PheGenI | rs138058572 |
Biobank | rs138058572 |
1000 genomes | rs138058572 |
hgdp | rs138058572 |
ensembl | rs138058572 |
geneview | rs138058572 |
scholar | rs138058572 |
rs138058572 | |
pharmgkb | rs138058572 |
gwascentral | rs138058572 |
openSNP | rs138058572 |
23andMe | rs138058572 |
SNPshot | rs138058572 |
SNPdbe | rs138058572 |
MSV3d | rs138058572 |
GWAS Ctlg | rs138058572 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138058572(A;A) |
Alt | rs138058572(A;A) |
Reference | Rs138058572(G;G) |
Significance | Probable-Pathogenic |
Disease | Myopathy Rhabdomyolysis |
Variation | info |
Gene | MIR324 ACADVL |
CLNDBN | Myopathy Rhabdomyolysis |
Reversed | 0 |
HGVS | NC_000017.10:g.7127312G>A |
CLNSRC | |
CLNACC | RCV000415274.1, |