rs863224885
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863224885(A;G) |
Make rs863224885(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 77110250 |
Gene | KCNMA1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224885 |
dbSNP (classic) | rs863224885 |
ClinGen | rs863224885 |
ebi | rs863224885 |
HLI | rs863224885 |
Exac | rs863224885 |
Gnomad | rs863224885 |
Varsome | rs863224885 |
LitVar | rs863224885 |
Map | rs863224885 |
PheGenI | rs863224885 |
Biobank | rs863224885 |
1000 genomes | rs863224885 |
hgdp | rs863224885 |
ensembl | rs863224885 |
geneview | rs863224885 |
scholar | rs863224885 |
rs863224885 | |
pharmgkb | rs863224885 |
gwascentral | rs863224885 |
openSNP | rs863224885 |
23andMe | rs863224885 |
SNPshot | rs863224885 |
SNPdbe | rs863224885 |
MSV3d | rs863224885 |
GWAS Ctlg | rs863224885 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224885(G;G) |
Alt | rs863224885(G;G) |
Reference | Rs863224885(A;A) |
Significance | Probable-Pathogenic |
Disease | Generalized epilepsy and paroxysmal dyskinesia |
Variation | info |
Gene | KCNMA1 |
CLNDBN | Generalized epilepsy and paroxysmal dyskinesia |
Reversed | 1 |
HGVS | NC_000010.10:g.78870008T>C |
CLNSRC | |
CLNACC | RCV000200082.1, |