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rs193922455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922455(A;A)
Make rs193922455(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22190446
GenePHEX
is asnp
is mentioned by
dbSNPrs193922455
dbSNP (classic)rs193922455
ClinGenrs193922455
ebirs193922455
HLIrs193922455
Exacrs193922455
Gnomadrs193922455
Varsomers193922455
LitVarrs193922455
Maprs193922455
PheGenIrs193922455
Biobankrs193922455
1000 genomesrs193922455
hgdprs193922455
ensemblrs193922455
geneviewrs193922455
scholarrs193922455
googlers193922455
pharmgkbrs193922455
gwascentralrs193922455
openSNPrs193922455
23andMers193922455
SNPshotrs193922455
SNPdbers193922455
MSV3drs193922455
GWAS Ctlgrs193922455
Max Magnitude0
ClinVar
Risk rs193922455(A;A)
Alt rs193922455(A;A)
Reference Rs193922455(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.22208563G>A
CLNSRC ClinVar
CLNACC RCV000030353.1,