rs797045163
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797045163(C;C) |
Make rs797045163(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 154367842 |
Gene | FLNA |
is a | snp |
is | mentioned by |
dbSNP | rs797045163 |
dbSNP (classic) | rs797045163 |
ClinGen | rs797045163 |
ebi | rs797045163 |
HLI | rs797045163 |
Exac | rs797045163 |
Gnomad | rs797045163 |
Varsome | rs797045163 |
LitVar | rs797045163 |
Map | rs797045163 |
PheGenI | rs797045163 |
Biobank | rs797045163 |
1000 genomes | rs797045163 |
hgdp | rs797045163 |
ensembl | rs797045163 |
geneview | rs797045163 |
scholar | rs797045163 |
rs797045163 | |
pharmgkb | rs797045163 |
gwascentral | rs797045163 |
openSNP | rs797045163 |
23andMe | rs797045163 |
SNPshot | rs797045163 |
SNPdbe | rs797045163 |
MSV3d | rs797045163 |
GWAS Ctlg | rs797045163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045163(C;C) |
Alt | rs797045163(C;C) |
Reference | Rs797045163(G;G) |
Significance | Pathogenic |
Disease | HETEROTOPIA |
Variation | info |
Gene | FLNA |
CLNDBN | HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME |
Reversed | 1 |
HGVS | NC_000023.10:g.153596210C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000191017.3, |