rs137853310
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853310(C;T) |
Make rs137853310(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154367920 |
Gene | FLNA |
is a | snp |
is | mentioned by |
dbSNP | rs137853310 |
dbSNP (classic) | rs137853310 |
ClinGen | rs137853310 |
ebi | rs137853310 |
HLI | rs137853310 |
Exac | rs137853310 |
Gnomad | rs137853310 |
Varsome | rs137853310 |
LitVar | rs137853310 |
Map | rs137853310 |
PheGenI | rs137853310 |
Biobank | rs137853310 |
1000 genomes | rs137853310 |
hgdp | rs137853310 |
ensembl | rs137853310 |
geneview | rs137853310 |
scholar | rs137853310 |
rs137853310 | |
pharmgkb | rs137853310 |
gwascentral | rs137853310 |
openSNP | rs137853310 |
23andMe | rs137853310 |
SNPshot | rs137853310 |
SNPdbe | rs137853310 |
MSV3d | rs137853310 |
GWAS Ctlg | rs137853310 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853310(T;T) |
Alt | rs137853310(T;T) |
Reference | Rs137853310(C;C) |
Significance | Pathogenic |
Disease | Periventricular nodular heterotopia 1 |
Variation | info |
Gene | FLNA |
CLNDBN | Periventricular nodular heterotopia 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.153596288G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012513.17, |