rs200817545
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs200817545(A;G) |
Make rs200817545(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 56879168 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs200817545 |
dbSNP (classic) | rs200817545 |
ClinGen | rs200817545 |
ebi | rs200817545 |
HLI | rs200817545 |
Exac | rs200817545 |
Gnomad | rs200817545 |
Varsome | rs200817545 |
LitVar | rs200817545 |
Map | rs200817545 |
PheGenI | rs200817545 |
Biobank | rs200817545 |
1000 genomes | rs200817545 |
hgdp | rs200817545 |
ensembl | rs200817545 |
geneview | rs200817545 |
scholar | rs200817545 |
rs200817545 | |
pharmgkb | rs200817545 |
gwascentral | rs200817545 |
openSNP | rs200817545 |
23andMe | rs200817545 |
SNPshot | rs200817545 |
SNPdbe | rs200817545 |
MSV3d | rs200817545 |
GWAS Ctlg | rs200817545 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200817545(G;G) rs200817545(T;T) |
Alt | rs200817545(G;G) rs200817545(T;T) |
Reference | Rs200817545(A;A) |
Significance | Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia |
Reversed | 0 |
HGVS | NC_000016.9:g.56913080A>T |
CLNSRC | |
CLNACC | RCV000454555.1, |