rs398124554
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398124554(-;-) |
Make rs398124554(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 28902650 |
Gene | ATP2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124554 |
dbSNP (classic) | rs398124554 |
ClinGen | rs398124554 |
ebi | rs398124554 |
HLI | rs398124554 |
Exac | rs398124554 |
Gnomad | rs398124554 |
Varsome | rs398124554 |
LitVar | rs398124554 |
Map | rs398124554 |
PheGenI | rs398124554 |
Biobank | rs398124554 |
1000 genomes | rs398124554 |
hgdp | rs398124554 |
ensembl | rs398124554 |
geneview | rs398124554 |
scholar | rs398124554 |
rs398124554 | |
pharmgkb | rs398124554 |
gwascentral | rs398124554 |
openSNP | rs398124554 |
23andMe | rs398124554 |
SNPshot | rs398124554 |
SNPdbe | rs398124554 |
MSV3d | rs398124554 |
GWAS Ctlg | rs398124554 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124554(-;-) |
Alt | rs398124554(-;-) |
Reference | Rs398124554(C;C) |
Significance | Pathogenic |
Disease | not provided Brody myopathy |
Variation | info |
Gene | NPIPB8 ATP2A1 |
CLNDBN | not provided Brody myopathy |
Reversed | 0 |
HGVS | NC_000016.9:g.28913971delC |
CLNSRC | ClinVar |
CLNACC | RCV000082697.4, RCV000326788.1, |