rs267606945
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267606945(C;C) |
Make rs267606945(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 22094005 |
Gene | PHEX |
is a | snp |
is | mentioned by |
dbSNP | rs267606945 |
dbSNP (classic) | rs267606945 |
ClinGen | rs267606945 |
ebi | rs267606945 |
HLI | rs267606945 |
Exac | rs267606945 |
Gnomad | rs267606945 |
Varsome | rs267606945 |
LitVar | rs267606945 |
Map | rs267606945 |
PheGenI | rs267606945 |
Biobank | rs267606945 |
1000 genomes | rs267606945 |
hgdp | rs267606945 |
ensembl | rs267606945 |
geneview | rs267606945 |
scholar | rs267606945 |
rs267606945 | |
pharmgkb | rs267606945 |
gwascentral | rs267606945 |
openSNP | rs267606945 |
23andMe | rs267606945 |
SNPshot | rs267606945 |
SNPdbe | rs267606945 |
MSV3d | rs267606945 |
GWAS Ctlg | rs267606945 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606945(C;C) |
Alt | rs267606945(C;C) |
Reference | Rs267606945(T;T) |
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.22112123T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011565.7, |