rs875989852
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs875989852(A;T) |
Make rs875989852(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 54810073 |
Gene | MAGED2 |
is a | snp |
is | mentioned by |
dbSNP | rs875989852 |
dbSNP (classic) | rs875989852 |
ClinGen | rs875989852 |
ebi | rs875989852 |
HLI | rs875989852 |
Exac | rs875989852 |
Gnomad | rs875989852 |
Varsome | rs875989852 |
LitVar | rs875989852 |
Map | rs875989852 |
PheGenI | rs875989852 |
Biobank | rs875989852 |
1000 genomes | rs875989852 |
hgdp | rs875989852 |
ensembl | rs875989852 |
geneview | rs875989852 |
scholar | rs875989852 |
rs875989852 | |
pharmgkb | rs875989852 |
gwascentral | rs875989852 |
openSNP | rs875989852 |
23andMe | rs875989852 |
SNPshot | rs875989852 |
SNPdbe | rs875989852 |
MSV3d | rs875989852 |
GWAS Ctlg | rs875989852 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989852(T;T) |
Alt | rs875989852(T;T) |
Reference | Rs875989852(A;A) |
Significance | Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | MAGED2 |
CLNDBN | Bartter syndrome, type 5, antenatal, transient |
Reversed | 0 |
HGVS | NC_000023.10:g.54836506A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000211438.2, |