rs1057518896

Orientation

plus

Stabilized

plus

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

Make rs1057518896(-;AACT)

Make rs1057518896(AACT;AACT)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

22247873

Gene	PHEX, PTCHD1-AS

is a	snp
is	mentioned by
dbSNP	rs1057518896
dbSNP (classic)	rs1057518896
ClinGen	rs1057518896
ebi	rs1057518896
HLI	rs1057518896
Exac	rs1057518896
Gnomad	rs1057518896
Varsome	rs1057518896
LitVar	rs1057518896
Map	rs1057518896
PheGenI	rs1057518896
Biobank	rs1057518896
1000 genomes	rs1057518896
hgdp	rs1057518896
ensembl	rs1057518896
geneview	rs1057518896
scholar	rs1057518896
google	rs1057518896
pharmgkb	rs1057518896
gwascentral	rs1057518896
openSNP	rs1057518896
23andMe	rs1057518896
SNPshot	rs1057518896
SNPdbe	rs1057518896
MSV3d	rs1057518896
GWAS Ctlg	rs1057518896

Max Magnitude

0

ClinVar
Risk	rs1057518896(TAAC;TAAC)
Alt	rs1057518896(TAAC;TAAC)
Reference	Rs1057518896(-;-)
Significance	Pathogenic
Disease	Bowing of the legs Hypophosphatemic rickets Lower limb pain
Variation	info
Gene	PTCHD1-AS PHEX
CLNDBN	Bowing of the legs Hypophosphatemic rickets Lower limb pain
Reversed	0
HGVS	NC_000023.10:g.22265987_22265990dupAACT
CLNSRC
CLNACC	RCV000414906.1,