rs137853271
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853271(C;T) |
Make rs137853271(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 22212957 |
Gene | PHEX, PTCHD1-AS |
is a | snp |
is | mentioned by |
dbSNP | rs137853271 |
dbSNP (classic) | rs137853271 |
ClinGen | rs137853271 |
ebi | rs137853271 |
HLI | rs137853271 |
Exac | rs137853271 |
Gnomad | rs137853271 |
Varsome | rs137853271 |
LitVar | rs137853271 |
Map | rs137853271 |
PheGenI | rs137853271 |
Biobank | rs137853271 |
1000 genomes | rs137853271 |
hgdp | rs137853271 |
ensembl | rs137853271 |
geneview | rs137853271 |
scholar | rs137853271 |
rs137853271 | |
pharmgkb | rs137853271 |
gwascentral | rs137853271 |
openSNP | rs137853271 |
23andMe | rs137853271 |
SNPshot | rs137853271 |
SNPdbe | rs137853271 |
MSV3d | rs137853271 |
GWAS Ctlg | rs137853271 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853271(A;A) rs137853271(T;T) |
Alt | rs137853271(A;A) rs137853271(T;T) |
Reference | Rs137853271(C;C) |
Significance | Pathogenic |
Disease | Familial X-linked hypophosphatemic vitamin D refractory rickets not provided |
Variation | info |
Gene | PTCHD1-AS PHEX |
CLNDBN | Familial X-linked hypophosphatemic vitamin D refractory rickets not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.22231074C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011569.6, RCV000414471.1, |