rs137853269

Orientation

plus

Stabilized

plus

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

Make rs137853269(A;A)

Make rs137853269(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

22047116

Gene

PHEX

is a	snp
is	mentioned by
dbSNP	rs137853269
dbSNP (classic)	rs137853269
ClinGen	rs137853269
ebi	rs137853269
HLI	rs137853269
Exac	rs137853269
Gnomad	rs137853269
Varsome	rs137853269
LitVar	rs137853269
Map	rs137853269
PheGenI	rs137853269
Biobank	rs137853269
1000 genomes	rs137853269
hgdp	rs137853269
ensembl	rs137853269
geneview	rs137853269
scholar	rs137853269
google	rs137853269
pharmgkb	rs137853269
gwascentral	rs137853269
openSNP	rs137853269
23andMe	rs137853269
SNPshot	rs137853269
SNPdbe	rs137853269
MSV3d	rs137853269
GWAS Ctlg	rs137853269

Max Magnitude

0

OMIM	300550
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137853269(A;A)
Alt	rs137853269(A;A)
Reference	Rs137853269(G;G)
Significance	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.22065234G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011564.4,