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rs193922456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922456(C;C)
Make rs193922456(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22226492
GenePHEX
is asnp
is mentioned by
dbSNPrs193922456
ebirs193922456
HLIrs193922456
Exacrs193922456
Varsomers193922456
Maprs193922456
PheGenIrs193922456
hapmaprs193922456
1000 genomesrs193922456
hgdprs193922456
ensemblrs193922456
gopubmedrs193922456
geneviewrs193922456
scholarrs193922456
googlers193922456
pharmgkbrs193922456
gwascentralrs193922456
openSNPrs193922456
23andMers193922456
23andMe allrs193922456
SNP Nexus

SNPshotrs193922456
SNPdbers193922456
MSV3drs193922456
GWAS Ctlgrs193922456
Max Magnitude0
ClinVar
Risk rs193922456(C;C)
Alt rs193922456(C;C)
Reference rs193922456(T;T)
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.22244609T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030354.1,