rs398123057
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123057(A;G) |
Make rs398123057(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 49963495 |
Gene | AQP5, LOC101927318 |
is a | snp |
is | mentioned by |
dbSNP | rs398123057 |
dbSNP (classic) | rs398123057 |
ClinGen | rs398123057 |
ebi | rs398123057 |
HLI | rs398123057 |
Exac | rs398123057 |
Gnomad | rs398123057 |
Varsome | rs398123057 |
LitVar | rs398123057 |
Map | rs398123057 |
PheGenI | rs398123057 |
Biobank | rs398123057 |
1000 genomes | rs398123057 |
hgdp | rs398123057 |
ensembl | rs398123057 |
geneview | rs398123057 |
scholar | rs398123057 |
rs398123057 | |
pharmgkb | rs398123057 |
gwascentral | rs398123057 |
openSNP | rs398123057 |
23andMe | rs398123057 |
SNPshot | rs398123057 |
SNPdbe | rs398123057 |
MSV3d | rs398123057 |
GWAS Ctlg | rs398123057 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123057(G;G) |
Alt | rs398123057(G;G) |
Reference | Rs398123057(A;A) |
Significance | Pathogenic |
Disease | Diffuse palmoplantar keratoderma |
Variation | info |
Gene | LOC101927318 AQP5 |
CLNDBN | Diffuse palmoplantar keratoderma, Bothnian type |
Reversed | 0 |
HGVS | NC_000012.11:g.50357278A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000055672.4, |