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rs193922454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922454(G;G)
Make rs193922454(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22133626
GenePHEX
is asnp
is mentioned by
dbSNPrs193922454
ebirs193922454
HLIrs193922454
Exacrs193922454
Varsomers193922454
Maprs193922454
PheGenIrs193922454
hapmaprs193922454
1000 genomesrs193922454
hgdprs193922454
ensemblrs193922454
gopubmedrs193922454
geneviewrs193922454
scholarrs193922454
googlers193922454
pharmgkbrs193922454
gwascentralrs193922454
openSNPrs193922454
23andMers193922454
23andMe allrs193922454
SNP Nexus

SNPshotrs193922454
SNPdbers193922454
MSV3drs193922454
GWAS Ctlgrs193922454
Max Magnitude0
ClinVar
Risk rs193922454(G;G)
Alt rs193922454(G;G)
Reference rs193922454(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.22151743T>G
CLNSRC ClinVar
CLNACC RCV000030352.1,