rs147901432
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147901432(A;A) |
Make rs147901432(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 56885364 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs147901432 |
dbSNP (classic) | rs147901432 |
ClinGen | rs147901432 |
ebi | rs147901432 |
HLI | rs147901432 |
Exac | rs147901432 |
Gnomad | rs147901432 |
Varsome | rs147901432 |
LitVar | rs147901432 |
Map | rs147901432 |
PheGenI | rs147901432 |
Biobank | rs147901432 |
1000 genomes | rs147901432 |
hgdp | rs147901432 |
ensembl | rs147901432 |
geneview | rs147901432 |
scholar | rs147901432 |
rs147901432 | |
pharmgkb | rs147901432 |
gwascentral | rs147901432 |
openSNP | rs147901432 |
23andMe | rs147901432 |
SNPshot | rs147901432 |
SNPdbe | rs147901432 |
MSV3d | rs147901432 |
GWAS Ctlg | rs147901432 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147901432(A;A) |
Alt | rs147901432(A;A) |
Reference | Rs147901432(G;G) |
Significance | Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia |
Reversed | 0 |
HGVS | NC_000016.9:g.56919276G>A |
CLNSRC | Illumina |
CLNACC | RCV000362354.1, |