rs886039870
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886039870(C;C) |
Make rs886039870(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 15 |
Position | 48229307 |
Gene | LOC105370807, SLC12A1 |
is a | snp |
is | mentioned by |
dbSNP | rs886039870 |
dbSNP (classic) | rs886039870 |
ClinGen | rs886039870 |
ebi | rs886039870 |
HLI | rs886039870 |
Exac | rs886039870 |
Gnomad | rs886039870 |
Varsome | rs886039870 |
LitVar | rs886039870 |
Map | rs886039870 |
PheGenI | rs886039870 |
Biobank | rs886039870 |
1000 genomes | rs886039870 |
hgdp | rs886039870 |
ensembl | rs886039870 |
geneview | rs886039870 |
scholar | rs886039870 |
rs886039870 | |
pharmgkb | rs886039870 |
gwascentral | rs886039870 |
openSNP | rs886039870 |
23andMe | rs886039870 |
SNPshot | rs886039870 |
SNPdbe | rs886039870 |
MSV3d | rs886039870 |
GWAS Ctlg | rs886039870 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039870(C;C) |
Alt | rs886039870(C;C) |
Reference | Rs886039870(G;G) |
Significance | Probable-Pathogenic |
Disease | Bartter syndrome |
Variation | info |
Gene | SLC12A1 |
CLNDBN | Bartter syndrome, type 1, antenatal |
Reversed | 0 |
HGVS | NC_000015.9:g.48521504G>C |
CLNSRC | |
CLNACC | RCV000256371.1, |