rs193922454

Orientation

plus

Stabilized

plus

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

Make rs193922454(G;G)

Make rs193922454(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

22133626

Gene

PHEX

is a	snp
is	mentioned by
dbSNP	rs193922454
dbSNP (classic)	rs193922454
ClinGen	rs193922454
ebi	rs193922454
HLI	rs193922454
Exac	rs193922454
Gnomad	rs193922454
Varsome	rs193922454
LitVar	rs193922454
Map	rs193922454
PheGenI	rs193922454
Biobank	rs193922454
1000 genomes	rs193922454
hgdp	rs193922454
ensembl	rs193922454
geneview	rs193922454
scholar	rs193922454
google	rs193922454
pharmgkb	rs193922454
gwascentral	rs193922454
openSNP	rs193922454
23andMe	rs193922454
SNPshot	rs193922454
SNPdbe	rs193922454
MSV3d	rs193922454
GWAS Ctlg	rs193922454

Max Magnitude

0

ClinVar
Risk	rs193922454(G;G)
Alt	rs193922454(G;G)
Reference	Rs193922454(T;T)
Significance	Probable-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.22151743T>G
CLNSRC	ClinVar
CLNACC	RCV000030352.1,