rs869312702
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869312702(A;A) |
Make rs869312702(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 128203609 |
Gene | CIZ1, DNM1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312702 |
dbSNP (classic) | rs869312702 |
ClinGen | rs869312702 |
ebi | rs869312702 |
HLI | rs869312702 |
Exac | rs869312702 |
Gnomad | rs869312702 |
Varsome | rs869312702 |
LitVar | rs869312702 |
Map | rs869312702 |
PheGenI | rs869312702 |
Biobank | rs869312702 |
1000 genomes | rs869312702 |
hgdp | rs869312702 |
ensembl | rs869312702 |
geneview | rs869312702 |
scholar | rs869312702 |
rs869312702 | |
pharmgkb | rs869312702 |
gwascentral | rs869312702 |
openSNP | rs869312702 |
23andMe | rs869312702 |
SNPshot | rs869312702 |
SNPdbe | rs869312702 |
MSV3d | rs869312702 |
GWAS Ctlg | rs869312702 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312702(A;A) |
Alt | rs869312702(A;A) |
Reference | Rs869312702(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | CIZ1 DNM1 |
CLNDBN | Epileptic encephalopathy, early infantile, 31 |
Reversed | 0 |
HGVS | NC_000009.11:g.130965888G>A |
CLNSRC | |
CLNACC | RCV000209889.1, |