rs730882215
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730882215(A;A) |
Make rs730882215(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 78424869 |
Gene | WWOX |
is a | snp |
is | mentioned by |
dbSNP | rs730882215 |
dbSNP (classic) | rs730882215 |
ClinGen | rs730882215 |
ebi | rs730882215 |
HLI | rs730882215 |
Exac | rs730882215 |
Gnomad | rs730882215 |
Varsome | rs730882215 |
LitVar | rs730882215 |
Map | rs730882215 |
PheGenI | rs730882215 |
Biobank | rs730882215 |
1000 genomes | rs730882215 |
hgdp | rs730882215 |
ensembl | rs730882215 |
geneview | rs730882215 |
scholar | rs730882215 |
rs730882215 | |
pharmgkb | rs730882215 |
gwascentral | rs730882215 |
openSNP | rs730882215 |
23andMe | rs730882215 |
SNPshot | rs730882215 |
SNPdbe | rs730882215 |
MSV3d | rs730882215 |
GWAS Ctlg | rs730882215 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882215(A;A) |
Alt | rs730882215(A;A) |
Reference | Rs730882215(G;G) |
Significance | Probable-Pathogenic |
Disease | Abnormal facial shape Brain atrophy Global developmental delay Epileptic encephalopathy |
Variation | info |
Gene | WWOX |
CLNDBN | Abnormal facial shape Brain atrophy Global developmental delay Epileptic encephalopathy, early infantile, 28 |
Reversed | 0 |
HGVS | NC_000016.9:g.78458766G>A |
CLNSRC | |
CLNACC | RCV000162124.1, RCV000408849.1, |