rs193922457

Orientation

plus

Stabilized

plus

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

Make rs193922457(G;T)

Make rs193922457(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

22227540

Gene	PHEX, PTCHD1-AS

is a	snp
is	mentioned by
dbSNP	rs193922457
dbSNP (classic)	rs193922457
ClinGen	rs193922457
ebi	rs193922457
HLI	rs193922457
Exac	rs193922457
Gnomad	rs193922457
Varsome	rs193922457
LitVar	rs193922457
Map	rs193922457
PheGenI	rs193922457
Biobank	rs193922457
1000 genomes	rs193922457
hgdp	rs193922457
ensembl	rs193922457
geneview	rs193922457
scholar	rs193922457
google	rs193922457
pharmgkb	rs193922457
gwascentral	rs193922457
openSNP	rs193922457
23andMe	rs193922457
SNPshot	rs193922457
SNPdbe	rs193922457
MSV3d	rs193922457
GWAS Ctlg	rs193922457

Max Magnitude

0

ClinVar
Risk	rs193922457(T;T)
Alt	rs193922457(T;T)
Reference	Rs193922457(G;G)
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.22245657G>T
CLNSRC	ClinVar
CLNACC	RCV000030355.1,