rs878854407
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878854407(C;T) |
Make rs878854407(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 54814725 |
Gene | MAGED2, SNORA11 |
is a | snp |
is | mentioned by |
dbSNP | rs878854407 |
dbSNP (classic) | rs878854407 |
ClinGen | rs878854407 |
ebi | rs878854407 |
HLI | rs878854407 |
Exac | rs878854407 |
Gnomad | rs878854407 |
Varsome | rs878854407 |
LitVar | rs878854407 |
Map | rs878854407 |
PheGenI | rs878854407 |
Biobank | rs878854407 |
1000 genomes | rs878854407 |
hgdp | rs878854407 |
ensembl | rs878854407 |
geneview | rs878854407 |
scholar | rs878854407 |
rs878854407 | |
pharmgkb | rs878854407 |
gwascentral | rs878854407 |
openSNP | rs878854407 |
23andMe | rs878854407 |
SNPshot | rs878854407 |
SNPdbe | rs878854407 |
MSV3d | rs878854407 |
GWAS Ctlg | rs878854407 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854407(T;T) |
Alt | rs878854407(T;T) |
Reference | Rs878854407(C;C) |
Significance | Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | SNORA11 MAGED2 |
CLNDBN | Bartter syndrome, type 5, antenatal, transient |
Reversed | 0 |
HGVS | NC_000023.10:g.54841158C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000211522.2, |