rs758946412
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs758946412(-;G) |
Make rs758946412(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 100407506 |
Gene | PCDH19 |
is a | snp |
is | mentioned by |
dbSNP | rs758946412 |
dbSNP (classic) | rs758946412 |
ClinGen | rs758946412 |
ebi | rs758946412 |
HLI | rs758946412 |
Exac | rs758946412 |
Gnomad | rs758946412 |
Varsome | rs758946412 |
LitVar | rs758946412 |
Map | rs758946412 |
PheGenI | rs758946412 |
Biobank | rs758946412 |
1000 genomes | rs758946412 |
hgdp | rs758946412 |
ensembl | rs758946412 |
geneview | rs758946412 |
scholar | rs758946412 |
rs758946412 | |
pharmgkb | rs758946412 |
gwascentral | rs758946412 |
openSNP | rs758946412 |
23andMe | rs758946412 |
SNPshot | rs758946412 |
SNPdbe | rs758946412 |
MSV3d | rs758946412 |
GWAS Ctlg | rs758946412 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758946412(G;G) |
Alt | rs758946412(G;G) |
Reference | Rs758946412(-;-) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 9 not provided |
Variation | info |
Gene | PCDH19 |
CLNDBN | Early infantile epileptic encephalopathy 9 not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.99662505dupG |
CLNSRC | |
CLNACC | RCV000173240.1, RCV000188390.2, |