rs886044913
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Chromosome | 9 |
Position | 116699108 |
Gene | ASTN2, TRIM32 |
is a | snp |
is | mentioned by |
dbSNP | rs886044913 |
dbSNP (classic) | rs886044913 |
ClinGen | rs886044913 |
ebi | rs886044913 |
HLI | rs886044913 |
Exac | rs886044913 |
Gnomad | rs886044913 |
Varsome | rs886044913 |
LitVar | rs886044913 |
Map | rs886044913 |
PheGenI | rs886044913 |
Biobank | rs886044913 |
1000 genomes | rs886044913 |
hgdp | rs886044913 |
ensembl | rs886044913 |
geneview | rs886044913 |
scholar | rs886044913 |
rs886044913 | |
pharmgkb | rs886044913 |
gwascentral | rs886044913 |
openSNP | rs886044913 |
23andMe | rs886044913 |
SNPshot | rs886044913 |
SNPdbe | rs886044913 |
MSV3d | rs886044913 |
GWAS Ctlg | rs886044913 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044913(TA;TA) |
Alt | rs886044913(TA;TA) |
Reference | Rs886044913(-;-) |
Significance | Pathogenic |
Disease | Elevated serum creatine phosphokinase |
Variation | info |
Gene | TRIM32 ASTN2 |
CLNDBN | Elevated serum creatine phosphokinase |
Reversed | 0 |
HGVS | NC_000009.11:g.119461386_119461387dupTA |
CLNSRC | |
CLNACC | RCV000306682.1, |