rs137853270

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs137853270(C;C)

Make rs137853270(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

22212922

Gene	PHEX, PTCHD1-AS

is a	snp
is	mentioned by
dbSNP	rs137853270
dbSNP (classic)	rs137853270
ClinGen	rs137853270
ebi	rs137853270
HLI	rs137853270
Exac	rs137853270
Gnomad	rs137853270
Varsome	rs137853270
LitVar	rs137853270
Map	rs137853270
PheGenI	rs137853270
Biobank	rs137853270
1000 genomes	rs137853270
hgdp	rs137853270
ensembl	rs137853270
geneview	rs137853270
scholar	rs137853270
google	rs137853270
pharmgkb	rs137853270
gwascentral	rs137853270
openSNP	rs137853270
23andMe	rs137853270
SNPshot	rs137853270
SNPdbe	rs137853270
MSV3d	rs137853270
GWAS Ctlg	rs137853270

Max Magnitude

0

OMIM	300550
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137853270(C;C)
Alt	rs137853270(C;C)
Reference	Rs137853270(T;T)
Significance	Pathogenic
Disease	Familial X-linked hypophosphatemic vitamin D refractory rickets
Variation	info
Gene	PTCHD1-AS PHEX
CLNDBN	Familial X-linked hypophosphatemic vitamin D refractory rickets
Reversed	0
HGVS	NC_000023.10:g.22231039T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011566.8,