rs201255508
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201255508(C;T) |
Make rs201255508(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 56865482 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs201255508 |
dbSNP (classic) | rs201255508 |
ClinGen | rs201255508 |
ebi | rs201255508 |
HLI | rs201255508 |
Exac | rs201255508 |
Gnomad | rs201255508 |
Varsome | rs201255508 |
LitVar | rs201255508 |
Map | rs201255508 |
PheGenI | rs201255508 |
Biobank | rs201255508 |
1000 genomes | rs201255508 |
hgdp | rs201255508 |
ensembl | rs201255508 |
geneview | rs201255508 |
scholar | rs201255508 |
rs201255508 | |
pharmgkb | rs201255508 |
gwascentral | rs201255508 |
openSNP | rs201255508 |
23andMe | rs201255508 |
SNPshot | rs201255508 |
SNPdbe | rs201255508 |
MSV3d | rs201255508 |
GWAS Ctlg | rs201255508 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201255508(T;T) |
Alt | rs201255508(T;T) |
Reference | Rs201255508(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia |
Reversed | 0 |
HGVS | NC_000016.9:g.56899394C>T |
CLNSRC | Illumina |
CLNACC | RCV000380828.1, |