rs886039753
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886039753(C;T) |
Make rs886039753(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 56885288 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs886039753 |
dbSNP (classic) | rs886039753 |
ClinGen | rs886039753 |
ebi | rs886039753 |
HLI | rs886039753 |
Exac | rs886039753 |
Gnomad | rs886039753 |
Varsome | rs886039753 |
LitVar | rs886039753 |
Map | rs886039753 |
PheGenI | rs886039753 |
Biobank | rs886039753 |
1000 genomes | rs886039753 |
hgdp | rs886039753 |
ensembl | rs886039753 |
geneview | rs886039753 |
scholar | rs886039753 |
rs886039753 | |
pharmgkb | rs886039753 |
gwascentral | rs886039753 |
openSNP | rs886039753 |
23andMe | rs886039753 |
SNPshot | rs886039753 |
SNPdbe | rs886039753 |
MSV3d | rs886039753 |
GWAS Ctlg | rs886039753 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039753(T;T) |
Alt | rs886039753(T;T) |
Reference | Rs886039753(C;C) |
Significance | Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia |
Reversed | 0 |
HGVS | NC_000016.9:g.56919200C>T |
CLNSRC | |
CLNACC | RCV000256196.1, |