rs11554421
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs11554421(A;A) |
Make rs11554421(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 753986 |
Gene | WNK1 |
is a | snp |
is | mentioned by |
dbSNP | rs11554421 |
dbSNP (classic) | rs11554421 |
ClinGen | rs11554421 |
ebi | rs11554421 |
HLI | rs11554421 |
Exac | rs11554421 |
Gnomad | rs11554421 |
Varsome | rs11554421 |
LitVar | rs11554421 |
Map | rs11554421 |
PheGenI | rs11554421 |
Biobank | rs11554421 |
1000 genomes | rs11554421 |
hgdp | rs11554421 |
ensembl | rs11554421 |
geneview | rs11554421 |
scholar | rs11554421 |
rs11554421 | |
pharmgkb | rs11554421 |
gwascentral | rs11554421 |
openSNP | rs11554421 |
23andMe | rs11554421 |
SNPshot | rs11554421 |
SNPdbe | rs11554421 |
MSV3d | rs11554421 |
GWAS Ctlg | rs11554421 |
GMAF | 0.07071 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs11554421(A;A) |
Alt | rs11554421(A;A) |
Reference | Rs11554421(G;G) |
Significance | Non-pathogenic |
Disease | not specified Pseudohypoaldosteronism Hereditary sensory and autonomic neuropathy type II |
Variation | info |
Gene | WNK1 |
CLNDBN | not specified Pseudohypoaldosteronism, type 2 Hereditary sensory and autonomic neuropathy type II |
Reversed | 0 |
HGVS | NC_000012.11:g.863152G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000126341.2, RCV000274665.1, RCV000369345.1, |