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rs193922459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922459(C;C)
Make rs193922459(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22047212
GenePHEX
is asnp
is mentioned by
dbSNPrs193922459
ebirs193922459
HLIrs193922459
Exacrs193922459
Varsomers193922459
Maprs193922459
PheGenIrs193922459
hapmaprs193922459
1000 genomesrs193922459
hgdprs193922459
ensemblrs193922459
gopubmedrs193922459
geneviewrs193922459
scholarrs193922459
googlers193922459
pharmgkbrs193922459
gwascentralrs193922459
openSNPrs193922459
23andMers193922459
23andMe allrs193922459
SNP Nexus

SNPshotrs193922459
SNPdbers193922459
MSV3drs193922459
GWAS Ctlgrs193922459
Max Magnitude0
ClinVar
Risk rs193922459(C;C)
Alt rs193922459(C;C)
Reference rs193922459(G;G)
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.22065330G>C
CLNSRC ClinVar
CLNACC RCV000030357.1,