rs878854357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTTTGTTTA;CTTTGTTTA) | 0 | common in clinvar |
Make rs878854357(-;-) |
Make rs878854357(-;GTTTACTTT) |
Make rs878854357(GTTTACTTT;GTTTACTTT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 151403615 |
Gene | VMA21 |
is a | snp |
is | mentioned by |
dbSNP | rs878854357 |
dbSNP (classic) | rs878854357 |
ClinGen | rs878854357 |
ebi | rs878854357 |
HLI | rs878854357 |
Exac | rs878854357 |
Gnomad | rs878854357 |
Varsome | rs878854357 |
LitVar | rs878854357 |
Map | rs878854357 |
PheGenI | rs878854357 |
Biobank | rs878854357 |
1000 genomes | rs878854357 |
hgdp | rs878854357 |
ensembl | rs878854357 |
geneview | rs878854357 |
scholar | rs878854357 |
rs878854357 | |
pharmgkb | rs878854357 |
gwascentral | rs878854357 |
openSNP | rs878854357 |
23andMe | rs878854357 |
SNPshot | rs878854357 |
SNPdbe | rs878854357 |
MSV3d | rs878854357 |
GWAS Ctlg | rs878854357 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854357(-;-) |
Alt | rs878854357(-;-) |
Reference | Rs878854357(CTTTGTTTA;CTTTGTTTA) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | VMA21 |
CLNDBN | Myopathy, X-linked, with excessive autophagy |
Reversed | 0 |
HGVS | NC_000023.10:g.150572087_150572095delGTTTACTTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190834.2, |