rs886043584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | X |
Position | 22033072 |
Gene | PHEX |
is a | snp |
is | mentioned by |
dbSNP | rs886043584 |
dbSNP (classic) | rs886043584 |
ClinGen | rs886043584 |
ebi | rs886043584 |
HLI | rs886043584 |
Exac | rs886043584 |
Gnomad | rs886043584 |
Varsome | rs886043584 |
LitVar | rs886043584 |
Map | rs886043584 |
PheGenI | rs886043584 |
Biobank | rs886043584 |
1000 genomes | rs886043584 |
hgdp | rs886043584 |
ensembl | rs886043584 |
geneview | rs886043584 |
scholar | rs886043584 |
rs886043584 | |
pharmgkb | rs886043584 |
gwascentral | rs886043584 |
openSNP | rs886043584 |
23andMe | rs886043584 |
SNPshot | rs886043584 |
SNPdbe | rs886043584 |
MSV3d | rs886043584 |
GWAS Ctlg | rs886043584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043584(-;-) |
Alt | rs886043584(-;-) |
Reference | Rs886043584(C;C) |
Significance | Pathogenic |
Disease | Familial X-linked hypophosphatemic vitamin D refractory rickets |
Variation | info |
Gene | PHEX |
CLNDBN | Familial X-linked hypophosphatemic vitamin D refractory rickets |
Reversed | 0 |
HGVS | NC_000023.10:g.22051190delC |
CLNSRC | |
CLNACC | RCV000343368.1, |