rs796052815
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796052815(A;A) |
Make rs796052815(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 100407263 |
Gene | PCDH19 |
is a | snp |
is | mentioned by |
dbSNP | rs796052815 |
dbSNP (classic) | rs796052815 |
ClinGen | rs796052815 |
ebi | rs796052815 |
HLI | rs796052815 |
Exac | rs796052815 |
Gnomad | rs796052815 |
Varsome | rs796052815 |
LitVar | rs796052815 |
Map | rs796052815 |
PheGenI | rs796052815 |
Biobank | rs796052815 |
1000 genomes | rs796052815 |
hgdp | rs796052815 |
ensembl | rs796052815 |
geneview | rs796052815 |
scholar | rs796052815 |
rs796052815 | |
pharmgkb | rs796052815 |
gwascentral | rs796052815 |
openSNP | rs796052815 |
23andMe | rs796052815 |
SNPshot | rs796052815 |
SNPdbe | rs796052815 |
MSV3d | rs796052815 |
GWAS Ctlg | rs796052815 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052815(A;A) rs796052815(G;G) |
Alt | rs796052815(A;A) rs796052815(G;G) |
Reference | Rs796052815(C;C) |
Significance | Probable-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.99662261G>C; NC_000023.10:g.99662261G>T |
CLNSRC | |
CLNACC | RCV000470577.1, RCV000188368.1, |