rs200697179
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200697179(C;T) |
Make rs200697179(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 56885363 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs200697179 |
dbSNP (classic) | rs200697179 |
ClinGen | rs200697179 |
ebi | rs200697179 |
HLI | rs200697179 |
Exac | rs200697179 |
Gnomad | rs200697179 |
Varsome | rs200697179 |
LitVar | rs200697179 |
Map | rs200697179 |
PheGenI | rs200697179 |
Biobank | rs200697179 |
1000 genomes | rs200697179 |
hgdp | rs200697179 |
ensembl | rs200697179 |
geneview | rs200697179 |
scholar | rs200697179 |
rs200697179 | |
pharmgkb | rs200697179 |
gwascentral | rs200697179 |
openSNP | rs200697179 |
23andMe | rs200697179 |
SNPshot | rs200697179 |
SNPdbe | rs200697179 |
MSV3d | rs200697179 |
GWAS Ctlg | rs200697179 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200697179(G;G) rs200697179(T;T) |
Alt | rs200697179(G;G) rs200697179(T;T) |
Reference | Rs200697179(C;C) |
Significance | Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia |
Reversed | 0 |
HGVS | NC_000016.9:g.56919275C>G |
CLNSRC | |
CLNACC | RCV000449562.1, |