rs786205197
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205197(A;A) |
Make rs786205197(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 154357444 |
Gene | FLNA |
is a | snp |
is | mentioned by |
dbSNP | rs786205197 |
dbSNP (classic) | rs786205197 |
ClinGen | rs786205197 |
ebi | rs786205197 |
HLI | rs786205197 |
Exac | rs786205197 |
Gnomad | rs786205197 |
Varsome | rs786205197 |
LitVar | rs786205197 |
Map | rs786205197 |
PheGenI | rs786205197 |
Biobank | rs786205197 |
1000 genomes | rs786205197 |
hgdp | rs786205197 |
ensembl | rs786205197 |
geneview | rs786205197 |
scholar | rs786205197 |
rs786205197 | |
pharmgkb | rs786205197 |
gwascentral | rs786205197 |
openSNP | rs786205197 |
23andMe | rs786205197 |
SNPshot | rs786205197 |
SNPdbe | rs786205197 |
MSV3d | rs786205197 |
GWAS Ctlg | rs786205197 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205197(A;A) |
Alt | rs786205197(A;A) |
Reference | Rs786205197(C;C) |
Significance | Probable-Pathogenic |
Disease | Periventricular nodular heterotopia 1 |
Variation | info |
Gene | FLNA |
CLNDBN | Periventricular nodular heterotopia 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.153585812G>T |
CLNSRC | |
CLNACC | RCV000170419.1, |