rs121918114
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918114(A;A) |
Make rs121918114(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 28900841 |
Gene | ATP2A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918114 |
dbSNP (classic) | rs121918114 |
ClinGen | rs121918114 |
ebi | rs121918114 |
HLI | rs121918114 |
Exac | rs121918114 |
Gnomad | rs121918114 |
Varsome | rs121918114 |
LitVar | rs121918114 |
Map | rs121918114 |
PheGenI | rs121918114 |
Biobank | rs121918114 |
1000 genomes | rs121918114 |
hgdp | rs121918114 |
ensembl | rs121918114 |
geneview | rs121918114 |
scholar | rs121918114 |
rs121918114 | |
pharmgkb | rs121918114 |
gwascentral | rs121918114 |
openSNP | rs121918114 |
23andMe | rs121918114 |
SNPshot | rs121918114 |
SNPdbe | rs121918114 |
MSV3d | rs121918114 |
GWAS Ctlg | rs121918114 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918114(A;A) |
Alt | rs121918114(A;A) |
Reference | Rs121918114(C;C) |
Significance | Pathogenic |
Disease | Brody myopathy |
Variation | info |
Gene | NPIPB8 ATP2A1 |
CLNDBN | Brody myopathy |
Reversed | 0 |
HGVS | NC_000016.9:g.28912162C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019381.24, |