rs796051892
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796051892(C;T) |
Make rs796051892(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 123313913 |
Gene | SPATA5 |
is a | snp |
is | mentioned by |
dbSNP | rs796051892 |
dbSNP (classic) | rs796051892 |
ClinGen | rs796051892 |
ebi | rs796051892 |
HLI | rs796051892 |
Exac | rs796051892 |
Gnomad | rs796051892 |
Varsome | rs796051892 |
LitVar | rs796051892 |
Map | rs796051892 |
PheGenI | rs796051892 |
Biobank | rs796051892 |
1000 genomes | rs796051892 |
hgdp | rs796051892 |
ensembl | rs796051892 |
geneview | rs796051892 |
scholar | rs796051892 |
rs796051892 | |
pharmgkb | rs796051892 |
gwascentral | rs796051892 |
openSNP | rs796051892 |
23andMe | rs796051892 |
SNPshot | rs796051892 |
SNPdbe | rs796051892 |
MSV3d | rs796051892 |
GWAS Ctlg | rs796051892 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051892(T;T) |
Alt | rs796051892(T;T) |
Reference | Rs796051892(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | SPATA5 |
CLNDBN | Epilepsy, hearing loss, and mental retardation syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.124235068C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000193832.2, |