rs193922456

Orientation

plus

Stabilized

plus

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

Make rs193922456(C;C)

Make rs193922456(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

22226492

Gene	PHEX, PTCHD1-AS

is a	snp
is	mentioned by
dbSNP	rs193922456
dbSNP (classic)	rs193922456
ClinGen	rs193922456
ebi	rs193922456
HLI	rs193922456
Exac	rs193922456
Gnomad	rs193922456
Varsome	rs193922456
LitVar	rs193922456
Map	rs193922456
PheGenI	rs193922456
Biobank	rs193922456
1000 genomes	rs193922456
hgdp	rs193922456
ensembl	rs193922456
geneview	rs193922456
scholar	rs193922456
google	rs193922456
pharmgkb	rs193922456
gwascentral	rs193922456
openSNP	rs193922456
23andMe	rs193922456
SNPshot	rs193922456
SNPdbe	rs193922456
MSV3d	rs193922456
GWAS Ctlg	rs193922456

Max Magnitude

0

ClinVar
Risk	rs193922456(C;C)
Alt	rs193922456(C;C)
Reference	Rs193922456(T;T)
Significance	Probable-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.22244609T>C
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030354.1,