rs398123616
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398123616(-;C) |
Make rs398123616(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154361361 |
Gene | FLNA |
is a | snp |
is | mentioned by |
dbSNP | rs398123616 |
dbSNP (classic) | rs398123616 |
ClinGen | rs398123616 |
ebi | rs398123616 |
HLI | rs398123616 |
Exac | rs398123616 |
Gnomad | rs398123616 |
Varsome | rs398123616 |
LitVar | rs398123616 |
Map | rs398123616 |
PheGenI | rs398123616 |
Biobank | rs398123616 |
1000 genomes | rs398123616 |
hgdp | rs398123616 |
ensembl | rs398123616 |
geneview | rs398123616 |
scholar | rs398123616 |
rs398123616 | |
pharmgkb | rs398123616 |
gwascentral | rs398123616 |
openSNP | rs398123616 |
23andMe | rs398123616 |
SNPshot | rs398123616 |
SNPdbe | rs398123616 |
MSV3d | rs398123616 |
GWAS Ctlg | rs398123616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123616(C;C) |
Alt | rs398123616(C;C) |
Reference | Rs398123616(-;-) |
Significance | Pathogenic |
Disease | not provided Periventricular nodular heterotopia 1 Oto-palato-digital syndrome |
Variation | info |
Gene | FLNA |
CLNDBN | not provided Periventricular nodular heterotopia 1 Oto-palato-digital syndrome, type I |
Reversed | 1 |
HGVS | NC_000023.10:g.153589730dupG |
CLNSRC | ClinVar |
CLNACC | RCV000079692.3, RCV000176183.1, RCV000176184.1, |