rs193922458

Orientation

plus

Stabilized

plus

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

Make rs193922458(A;A)

Make rs193922458(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

22047180

Gene

PHEX

is a	snp
is	mentioned by
dbSNP	rs193922458
dbSNP (classic)	rs193922458
ClinGen	rs193922458
ebi	rs193922458
HLI	rs193922458
Exac	rs193922458
Gnomad	rs193922458
Varsome	rs193922458
LitVar	rs193922458
Map	rs193922458
PheGenI	rs193922458
Biobank	rs193922458
1000 genomes	rs193922458
hgdp	rs193922458
ensembl	rs193922458
geneview	rs193922458
scholar	rs193922458
google	rs193922458
pharmgkb	rs193922458
gwascentral	rs193922458
openSNP	rs193922458
23andMe	rs193922458
SNPshot	rs193922458
SNPdbe	rs193922458
MSV3d	rs193922458
GWAS Ctlg	rs193922458

Max Magnitude

0

ClinVar
Risk	rs193922458(A;A)
Alt	rs193922458(A;A)
Reference	Rs193922458(G;G)
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.22065298G>A
CLNSRC	ClinVar
CLNACC	RCV000030356.1,