rs786205189
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205189(-;ACGTCAAGGCCCGT) |
Make rs786205189(ACGTCAAGGCCCGT;ACGTCAAGGCCCGT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | X |
Position | 154359822 |
Gene | FLNA |
is a | snp |
is | mentioned by |
dbSNP | rs786205189 |
dbSNP (classic) | rs786205189 |
ClinGen | rs786205189 |
ebi | rs786205189 |
HLI | rs786205189 |
Exac | rs786205189 |
Gnomad | rs786205189 |
Varsome | rs786205189 |
LitVar | rs786205189 |
Map | rs786205189 |
PheGenI | rs786205189 |
Biobank | rs786205189 |
1000 genomes | rs786205189 |
hgdp | rs786205189 |
ensembl | rs786205189 |
geneview | rs786205189 |
scholar | rs786205189 |
rs786205189 | |
pharmgkb | rs786205189 |
gwascentral | rs786205189 |
openSNP | rs786205189 |
23andMe | rs786205189 |
SNPshot | rs786205189 |
SNPdbe | rs786205189 |
MSV3d | rs786205189 |
GWAS Ctlg | rs786205189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205189(ACGTCAAGGCCCGT;ACGTCAAGGCCCGT) |
Alt | rs786205189(ACGTCAAGGCCCGT;ACGTCAAGGCCCGT) |
Reference | Rs786205189(-;-) |
Significance | Probable-Pathogenic |
Disease | Periventricular nodular heterotopia 1 |
Variation | info |
Gene | FLNA |
CLNDBN | Periventricular nodular heterotopia 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.153588191_153588204dupACGGGCCTTGACGT |
CLNSRC | Claritas Genomics |
CLNACC | RCV000170410.1, |