rs730882226
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730882226(C;C) |
Make rs730882226(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 41071953 |
Gene | INO80 |
is a | snp |
is | mentioned by |
dbSNP | rs730882226 |
dbSNP (classic) | rs730882226 |
ClinGen | rs730882226 |
ebi | rs730882226 |
HLI | rs730882226 |
Exac | rs730882226 |
Gnomad | rs730882226 |
Varsome | rs730882226 |
LitVar | rs730882226 |
Map | rs730882226 |
PheGenI | rs730882226 |
Biobank | rs730882226 |
1000 genomes | rs730882226 |
hgdp | rs730882226 |
ensembl | rs730882226 |
geneview | rs730882226 |
scholar | rs730882226 |
rs730882226 | |
pharmgkb | rs730882226 |
gwascentral | rs730882226 |
openSNP | rs730882226 |
23andMe | rs730882226 |
SNPshot | rs730882226 |
SNPdbe | rs730882226 |
MSV3d | rs730882226 |
GWAS Ctlg | rs730882226 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882226(C;C) |
Alt | rs730882226(C;C) |
Reference | Rs730882226(T;T) |
Significance | Probable-Pathogenic |
Disease | Intellectual disability Primary microcephaly Seizures |
Variation | info |
Gene | INO80 |
CLNDBN | Intellectual disability Primary microcephaly Seizures |
Reversed | 1 |
HGVS | NC_000015.9:g.41364151A>G |
CLNSRC | |
CLNACC | RCV000162144.1, |