rs137853268
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137853268(A;A) |
Make rs137853268(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 22094080 |
Gene | PHEX |
is a | snp |
is | mentioned by |
dbSNP | rs137853268 |
dbSNP (classic) | rs137853268 |
ClinGen | rs137853268 |
ebi | rs137853268 |
HLI | rs137853268 |
Exac | rs137853268 |
Gnomad | rs137853268 |
Varsome | rs137853268 |
LitVar | rs137853268 |
Map | rs137853268 |
PheGenI | rs137853268 |
Biobank | rs137853268 |
1000 genomes | rs137853268 |
hgdp | rs137853268 |
ensembl | rs137853268 |
geneview | rs137853268 |
scholar | rs137853268 |
rs137853268 | |
pharmgkb | rs137853268 |
gwascentral | rs137853268 |
openSNP | rs137853268 |
23andMe | rs137853268 |
SNPshot | rs137853268 |
SNPdbe | rs137853268 |
MSV3d | rs137853268 |
GWAS Ctlg | rs137853268 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853268(A;A) |
Alt | rs137853268(A;A) |
Reference | Rs137853268(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.22112198T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011563.4, |