rs2297902
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2297902(C;T) |
Make rs2297902(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 201065943 |
Gene | CACNA1S |
is a | snp |
is | mentioned by |
dbSNP | rs2297902 |
dbSNP (classic) | rs2297902 |
ClinGen | rs2297902 |
ebi | rs2297902 |
HLI | rs2297902 |
Exac | rs2297902 |
Gnomad | rs2297902 |
Varsome | rs2297902 |
LitVar | rs2297902 |
Map | rs2297902 |
PheGenI | rs2297902 |
Biobank | rs2297902 |
1000 genomes | rs2297902 |
hgdp | rs2297902 |
ensembl | rs2297902 |
geneview | rs2297902 |
scholar | rs2297902 |
rs2297902 | |
pharmgkb | rs2297902 |
gwascentral | rs2297902 |
openSNP | rs2297902 |
23andMe | rs2297902 |
SNPshot | rs2297902 |
SNPdbe | rs2297902 |
MSV3d | rs2297902 |
GWAS Ctlg | rs2297902 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2297902(G;G) rs2297902(T;T) |
Alt | rs2297902(G;G) rs2297902(T;T) |
Reference | Rs2297902(C;C) |
Significance | Pathogenic |
Disease | not specified Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1 |
Variation | info |
Gene | CACNA1S |
CLNDBN | not specified Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.201035071G>A; NC_000001.10:g.201035071G>C |
CLNSRC | Illumina |
CLNACC | RCV000248838.2, RCV000298607.1, RCV000132734.2, |