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rs193922460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs193922460(-;CC)
Make rs193922460(CC;CC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22096990
GenePHEX
is asnp
is mentioned by
dbSNPrs193922460
dbSNP (classic)rs193922460
ClinGenrs193922460
ebirs193922460
HLIrs193922460
Exacrs193922460
Gnomadrs193922460
Varsomers193922460
LitVarrs193922460
Maprs193922460
PheGenIrs193922460
Biobankrs193922460
1000 genomesrs193922460
hgdprs193922460
ensemblrs193922460
geneviewrs193922460
scholarrs193922460
googlers193922460
pharmgkbrs193922460
gwascentralrs193922460
openSNPrs193922460
23andMers193922460
SNPshotrs193922460
SNPdbers193922460
MSV3drs193922460
GWAS Ctlgrs193922460
Max Magnitude0
ClinVar
Risk rs193922460(CC;CC)
Alt rs193922460(CC;CC)
Reference Rs193922460(-;-)
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.22115107_22115108dupCC
CLNSRC ClinVar LabCorp
CLNACC RCV000030358.1,