rs878854354
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs878854354(C;C) |
Make rs878854354(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 151405024 |
Gene | VMA21 |
is a | snp |
is | mentioned by |
dbSNP | rs878854354 |
dbSNP (classic) | rs878854354 |
ClinGen | rs878854354 |
ebi | rs878854354 |
HLI | rs878854354 |
Exac | rs878854354 |
Gnomad | rs878854354 |
Varsome | rs878854354 |
LitVar | rs878854354 |
Map | rs878854354 |
PheGenI | rs878854354 |
Biobank | rs878854354 |
1000 genomes | rs878854354 |
hgdp | rs878854354 |
ensembl | rs878854354 |
geneview | rs878854354 |
scholar | rs878854354 |
rs878854354 | |
pharmgkb | rs878854354 |
gwascentral | rs878854354 |
openSNP | rs878854354 |
23andMe | rs878854354 |
SNPshot | rs878854354 |
SNPdbe | rs878854354 |
MSV3d | rs878854354 |
GWAS Ctlg | rs878854354 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854354(C;C) |
Alt | rs878854354(C;C) |
Reference | Rs878854354(G;G) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | VMA21 |
CLNDBN | Myopathy, X-linked, with excessive autophagy |
Reversed | 0 |
HGVS | NC_000023.10:g.150573496G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190830.3, |