rs527236152
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs527236152(C;T) |
Make rs527236152(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 21703205 |
Gene | KCNJ18 |
is a | snp |
is | mentioned by |
dbSNP | rs527236152 |
dbSNP (classic) | rs527236152 |
ClinGen | rs527236152 |
ebi | rs527236152 |
HLI | rs527236152 |
Exac | rs527236152 |
Gnomad | rs527236152 |
Varsome | rs527236152 |
LitVar | rs527236152 |
Map | rs527236152 |
PheGenI | rs527236152 |
Biobank | rs527236152 |
1000 genomes | rs527236152 |
hgdp | rs527236152 |
ensembl | rs527236152 |
geneview | rs527236152 |
scholar | rs527236152 |
rs527236152 | |
pharmgkb | rs527236152 |
gwascentral | rs527236152 |
openSNP | rs527236152 |
23andMe | rs527236152 |
SNPshot | rs527236152 |
SNPdbe | rs527236152 |
MSV3d | rs527236152 |
GWAS Ctlg | rs527236152 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236152(T;T) |
Alt | rs527236152(T;T) |
Reference | Rs527236152(C;C) |
Significance | Pathogenic |
Disease | Thyrotoxic periodic paralysis |
Variation | info |
Gene | KCNJ18 |
CLNDBN | Thyrotoxic periodic paralysis |
Reversed | 0 |
HGVS | NC_000017.11:g.21703205C>T |
CLNSRC | ClinVar |
CLNACC | RCV000132739.2, |