rs193922459
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922459(C;C) |
Make rs193922459(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 22047212 |
Gene | PHEX |
is a | snp |
is | mentioned by |
dbSNP | rs193922459 |
dbSNP (classic) | rs193922459 |
ClinGen | rs193922459 |
ebi | rs193922459 |
HLI | rs193922459 |
Exac | rs193922459 |
Gnomad | rs193922459 |
Varsome | rs193922459 |
LitVar | rs193922459 |
Map | rs193922459 |
PheGenI | rs193922459 |
Biobank | rs193922459 |
1000 genomes | rs193922459 |
hgdp | rs193922459 |
ensembl | rs193922459 |
geneview | rs193922459 |
scholar | rs193922459 |
rs193922459 | |
pharmgkb | rs193922459 |
gwascentral | rs193922459 |
openSNP | rs193922459 |
23andMe | rs193922459 |
SNPshot | rs193922459 |
SNPdbe | rs193922459 |
MSV3d | rs193922459 |
GWAS Ctlg | rs193922459 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922459(C;C) |
Alt | rs193922459(C;C) |
Reference | Rs193922459(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial X-linked hypophosphatemic vitamin D refractory rickets not provided |
Variation | info |
Gene | PHEX |
CLNDBN | Familial X-linked hypophosphatemic vitamin D refractory rickets not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.22065330G>C |
CLNSRC | ClinVar |
CLNACC | RCV000030357.1, RCV000486450.1, |