rs797044665
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044665(C;G) |
Make rs797044665(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 53985147 |
Gene | PHF8 |
is a | snp |
is | mentioned by |
dbSNP | rs797044665 |
dbSNP (classic) | rs797044665 |
ClinGen | rs797044665 |
ebi | rs797044665 |
HLI | rs797044665 |
Exac | rs797044665 |
Gnomad | rs797044665 |
Varsome | rs797044665 |
LitVar | rs797044665 |
Map | rs797044665 |
PheGenI | rs797044665 |
Biobank | rs797044665 |
1000 genomes | rs797044665 |
hgdp | rs797044665 |
ensembl | rs797044665 |
geneview | rs797044665 |
scholar | rs797044665 |
rs797044665 | |
pharmgkb | rs797044665 |
gwascentral | rs797044665 |
openSNP | rs797044665 |
23andMe | rs797044665 |
SNPshot | rs797044665 |
SNPdbe | rs797044665 |
MSV3d | rs797044665 |
GWAS Ctlg | rs797044665 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044665(G;G) |
Alt | rs797044665(G;G) |
Reference | Rs797044665(C;C) |
Significance | Probable-Pathogenic |
Disease | Siderius X-linked mental retardation syndrome |
Variation | info |
Gene | PHF8 |
CLNDBN | Siderius X-linked mental retardation syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.54011580G>C |
CLNSRC | |
CLNACC | RCV000175335.1, |