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rs1057518896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518896(-;AACT)
Make rs1057518896(AACT;AACT)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position22247873
GenePHEX, PTCHD1-AS
is asnp
is mentioned by
dbSNPrs1057518896
dbSNP (old)rs1057518896
ClinGenrs1057518896
ebirs1057518896
HLIrs1057518896
Exacrs1057518896
Gnomadrs1057518896
Varsomers1057518896
Maprs1057518896
PheGenIrs1057518896
Biobankrs1057518896
1000 genomesrs1057518896
hgdprs1057518896
ensemblrs1057518896
gopubmedrs1057518896
geneviewrs1057518896
scholarrs1057518896
googlers1057518896
pharmgkbrs1057518896
gwascentralrs1057518896
openSNPrs1057518896
23andMers1057518896
23andMe allrs1057518896
SNPshotrs1057518896
SNPdbers1057518896
MSV3drs1057518896
GWAS Ctlgrs1057518896
Max Magnitude0
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,