rs797045031
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797045031(A;G) |
Make rs797045031(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 201058493 |
Gene | CACNA1S |
is a | snp |
is | mentioned by |
dbSNP | rs797045031 |
dbSNP (classic) | rs797045031 |
ClinGen | rs797045031 |
ebi | rs797045031 |
HLI | rs797045031 |
Exac | rs797045031 |
Gnomad | rs797045031 |
Varsome | rs797045031 |
LitVar | rs797045031 |
Map | rs797045031 |
PheGenI | rs797045031 |
Biobank | rs797045031 |
1000 genomes | rs797045031 |
hgdp | rs797045031 |
ensembl | rs797045031 |
geneview | rs797045031 |
scholar | rs797045031 |
rs797045031 | |
pharmgkb | rs797045031 |
gwascentral | rs797045031 |
openSNP | rs797045031 |
23andMe | rs797045031 |
SNPshot | rs797045031 |
SNPdbe | rs797045031 |
MSV3d | rs797045031 |
GWAS Ctlg | rs797045031 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045031(G;G) |
Alt | rs797045031(G;G) |
Reference | Rs797045031(A;A) |
Significance | Pathogenic |
Disease | Hypokalemic periodic paralysis 1 |
Variation | info |
Gene | CACNA1S |
CLNDBN | Hypokalemic periodic paralysis 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.201027621T>C |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191067.1, |