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rs193922458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922458(A;A)
Make rs193922458(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22047180
GenePHEX
is asnp
is mentioned by
dbSNPrs193922458
ebirs193922458
HLIrs193922458
Exacrs193922458
Varsomers193922458
Maprs193922458
PheGenIrs193922458
hapmaprs193922458
1000 genomesrs193922458
hgdprs193922458
ensemblrs193922458
gopubmedrs193922458
geneviewrs193922458
scholarrs193922458
googlers193922458
pharmgkbrs193922458
gwascentralrs193922458
openSNPrs193922458
23andMers193922458
23andMe allrs193922458
SNP Nexus

SNPshotrs193922458
SNPdbers193922458
MSV3drs193922458
GWAS Ctlgrs193922458
Max Magnitude0
ClinVar
Risk rs193922458(A;A)
Alt rs193922458(A;A)
Reference rs193922458(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.22065298G>A
CLNSRC ClinVar
CLNACC RCV000030356.1,