rs878854404
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878854404(C;G) |
Make rs878854404(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 54812204 |
Gene | MAGED2 |
is a | snp |
is | mentioned by |
dbSNP | rs878854404 |
dbSNP (classic) | rs878854404 |
ClinGen | rs878854404 |
ebi | rs878854404 |
HLI | rs878854404 |
Exac | rs878854404 |
Gnomad | rs878854404 |
Varsome | rs878854404 |
LitVar | rs878854404 |
Map | rs878854404 |
PheGenI | rs878854404 |
Biobank | rs878854404 |
1000 genomes | rs878854404 |
hgdp | rs878854404 |
ensembl | rs878854404 |
geneview | rs878854404 |
scholar | rs878854404 |
rs878854404 | |
pharmgkb | rs878854404 |
gwascentral | rs878854404 |
openSNP | rs878854404 |
23andMe | rs878854404 |
SNPshot | rs878854404 |
SNPdbe | rs878854404 |
MSV3d | rs878854404 |
GWAS Ctlg | rs878854404 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854404(G;G) |
Alt | rs878854404(G;G) |
Reference | Rs878854404(C;C) |
Significance | Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | MAGED2 |
CLNDBN | Bartter syndrome, type 5, antenatal, transient |
Reversed | 0 |
HGVS | NC_000023.10:g.54838637C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000211517.2, |