rs397514460
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514460(C;T) |
Make rs397514460(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 63785142 |
Gene | ARHGEF9 |
is a | snp |
is | mentioned by |
dbSNP | rs397514460 |
dbSNP (classic) | rs397514460 |
ClinGen | rs397514460 |
ebi | rs397514460 |
HLI | rs397514460 |
Exac | rs397514460 |
Gnomad | rs397514460 |
Varsome | rs397514460 |
LitVar | rs397514460 |
Map | rs397514460 |
PheGenI | rs397514460 |
Biobank | rs397514460 |
1000 genomes | rs397514460 |
hgdp | rs397514460 |
ensembl | rs397514460 |
geneview | rs397514460 |
scholar | rs397514460 |
rs397514460 | |
pharmgkb | rs397514460 |
gwascentral | rs397514460 |
openSNP | rs397514460 |
23andMe | rs397514460 |
SNPshot | rs397514460 |
SNPdbe | rs397514460 |
MSV3d | rs397514460 |
GWAS Ctlg | rs397514460 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514460(T;T) |
Alt | rs397514460(T;T) |
Reference | Rs397514460(C;C) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 8 |
Variation | info |
Gene | ARHGEF9 |
CLNDBN | Early infantile epileptic encephalopathy 8 |
Reversed | 1 |
HGVS | NC_000023.10:g.63005022G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022860.3, |