rs267607050
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267607050(C;T) |
Make rs267607050(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 56868355 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs267607050 |
dbSNP (classic) | rs267607050 |
ClinGen | rs267607050 |
ebi | rs267607050 |
HLI | rs267607050 |
Exac | rs267607050 |
Gnomad | rs267607050 |
Varsome | rs267607050 |
LitVar | rs267607050 |
Map | rs267607050 |
PheGenI | rs267607050 |
Biobank | rs267607050 |
1000 genomes | rs267607050 |
hgdp | rs267607050 |
ensembl | rs267607050 |
geneview | rs267607050 |
scholar | rs267607050 |
rs267607050 | |
pharmgkb | rs267607050 |
gwascentral | rs267607050 |
openSNP | rs267607050 |
23andMe | rs267607050 |
SNPshot | rs267607050 |
SNPdbe | rs267607050 |
MSV3d | rs267607050 |
GWAS Ctlg | rs267607050 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607050(T;T) |
Alt | rs267607050(T;T) |
Reference | Rs267607050(C;C) |
Significance | Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia |
Reversed | 0 |
HGVS | NC_000016.9:g.56902267C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009127.3, |