rs140012781
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140012781(C;T) |
Make rs140012781(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 56886366 |
Gene | SLC12A3 |
is a | snp |
is | mentioned by |
dbSNP | rs140012781 |
dbSNP (classic) | rs140012781 |
ClinGen | rs140012781 |
ebi | rs140012781 |
HLI | rs140012781 |
Exac | rs140012781 |
Gnomad | rs140012781 |
Varsome | rs140012781 |
LitVar | rs140012781 |
Map | rs140012781 |
PheGenI | rs140012781 |
Biobank | rs140012781 |
1000 genomes | rs140012781 |
hgdp | rs140012781 |
ensembl | rs140012781 |
geneview | rs140012781 |
scholar | rs140012781 |
rs140012781 | |
pharmgkb | rs140012781 |
gwascentral | rs140012781 |
openSNP | rs140012781 |
23andMe | rs140012781 |
SNPshot | rs140012781 |
SNPdbe | rs140012781 |
MSV3d | rs140012781 |
GWAS Ctlg | rs140012781 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140012781(T;T) |
Alt | rs140012781(T;T) |
Reference | Rs140012781(C;C) |
Significance | Pathogenic |
Disease | Familial hypokalemia-hypomagnesemia not specified |
Variation | info |
Gene | SLC12A3 |
CLNDBN | Familial hypokalemia-hypomagnesemia not specified |
Reversed | 0 |
HGVS | NC_000016.9:g.56920278C>T |
CLNSRC | |
CLNACC | RCV000477915.1, RCV000478620.1, |