rs863224920
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224920(C;G) |
Make rs863224920(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48229199 |
Gene | LOC105370807, SLC12A1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224920 |
dbSNP (classic) | rs863224920 |
ClinGen | rs863224920 |
ebi | rs863224920 |
HLI | rs863224920 |
Exac | rs863224920 |
Gnomad | rs863224920 |
Varsome | rs863224920 |
LitVar | rs863224920 |
Map | rs863224920 |
PheGenI | rs863224920 |
Biobank | rs863224920 |
1000 genomes | rs863224920 |
hgdp | rs863224920 |
ensembl | rs863224920 |
geneview | rs863224920 |
scholar | rs863224920 |
rs863224920 | |
pharmgkb | rs863224920 |
gwascentral | rs863224920 |
openSNP | rs863224920 |
23andMe | rs863224920 |
SNPshot | rs863224920 |
SNPdbe | rs863224920 |
MSV3d | rs863224920 |
GWAS Ctlg | rs863224920 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224920(G;G) |
Alt | rs863224920(G;G) |
Reference | Rs863224920(C;C) |
Significance | Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | SLC12A1 |
CLNDBN | Bartter syndrome, type 1, antenatal |
Reversed | 0 |
HGVS | NC_000015.9:g.48521396C>G |
CLNSRC | |
CLNACC | RCV000200351.1, |