rs1231254
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1231254(A;T) |
Make rs1231254(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 128839052 |
Gene | KCNJ1 |
is a | snp |
is | mentioned by |
dbSNP | rs1231254 |
dbSNP (classic) | rs1231254 |
ClinGen | rs1231254 |
ebi | rs1231254 |
HLI | rs1231254 |
Exac | rs1231254 |
Gnomad | rs1231254 |
Varsome | rs1231254 |
LitVar | rs1231254 |
Map | rs1231254 |
PheGenI | rs1231254 |
Biobank | rs1231254 |
1000 genomes | rs1231254 |
hgdp | rs1231254 |
ensembl | rs1231254 |
geneview | rs1231254 |
scholar | rs1231254 |
rs1231254 | |
pharmgkb | rs1231254 |
gwascentral | rs1231254 |
openSNP | rs1231254 |
23andMe | rs1231254 |
SNPshot | rs1231254 |
SNPdbe | rs1231254 |
MSV3d | rs1231254 |
GWAS Ctlg | rs1231254 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
[PMID 26313793] Clinical and Genetic Factors Associated With Thiazide-Induced Hyponatremia
ClinVar | |
---|---|
Risk | rs1231254(T;T) |
Alt | rs1231254(T;T) |
Reference | Rs1231254(A;A) |
Significance | Non-pathogenic |
Disease | Antenatal Bartter Syndrome |
Variation | info |
Gene | KCNJ1 |
CLNDBN | Antenatal Bartter Syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.128708947T>A |
CLNSRC | |
CLNACC | RCV000383891.1, |