rs587784299
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587784299(A;T) |
Make rs587784299(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 100407903 |
Gene | PCDH19 |
is a | snp |
is | mentioned by |
dbSNP | rs587784299 |
dbSNP (classic) | rs587784299 |
ClinGen | rs587784299 |
ebi | rs587784299 |
HLI | rs587784299 |
Exac | rs587784299 |
Gnomad | rs587784299 |
Varsome | rs587784299 |
LitVar | rs587784299 |
Map | rs587784299 |
PheGenI | rs587784299 |
Biobank | rs587784299 |
1000 genomes | rs587784299 |
hgdp | rs587784299 |
ensembl | rs587784299 |
geneview | rs587784299 |
scholar | rs587784299 |
rs587784299 | |
pharmgkb | rs587784299 |
gwascentral | rs587784299 |
openSNP | rs587784299 |
23andMe | rs587784299 |
SNPshot | rs587784299 |
SNPdbe | rs587784299 |
MSV3d | rs587784299 |
GWAS Ctlg | rs587784299 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784299(G;G) rs587784299(T;T) |
Alt | rs587784299(G;G) rs587784299(T;T) |
Reference | Rs587784299(A;A) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 9 not provided |
Variation | info |
Gene | PCDH19 |
CLNDBN | Early infantile epileptic encephalopathy 9 not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.99662901T>A; NC_000023.10:g.99662901T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000147084.1, RCV000188357.2, |