rs112363874
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs112363874(A;A) |
Make rs112363874(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 154352449 |
Gene | FLNA |
is a | snp |
is | mentioned by |
dbSNP | rs112363874 |
dbSNP (classic) | rs112363874 |
ClinGen | rs112363874 |
ebi | rs112363874 |
HLI | rs112363874 |
Exac | rs112363874 |
Gnomad | rs112363874 |
Varsome | rs112363874 |
LitVar | rs112363874 |
Map | rs112363874 |
PheGenI | rs112363874 |
Biobank | rs112363874 |
1000 genomes | rs112363874 |
hgdp | rs112363874 |
ensembl | rs112363874 |
geneview | rs112363874 |
scholar | rs112363874 |
rs112363874 | |
pharmgkb | rs112363874 |
gwascentral | rs112363874 |
openSNP | rs112363874 |
23andMe | rs112363874 |
SNPshot | rs112363874 |
SNPdbe | rs112363874 |
MSV3d | rs112363874 |
GWAS Ctlg | rs112363874 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs112363874(A;A) rs112363874(G;G) |
Alt | rs112363874(A;A) rs112363874(G;G) |
Reference | Rs112363874(T;T) |
Significance | Probable-Pathogenic |
Disease | Periventricular nodular heterotopia 1 |
Variation | info |
Gene | FLNA |
CLNDBN | Periventricular nodular heterotopia 1 |
Reversed | 0 |
HGVS | NC_000023.10:g.153580817T>G |
CLNSRC | |
CLNACC | RCV000474370.1, |