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rs193922457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922457(G;T)
Make rs193922457(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22227540
GenePHEX
is asnp
is mentioned by
dbSNPrs193922457
ebirs193922457
HLIrs193922457
Exacrs193922457
Varsomers193922457
Maprs193922457
PheGenIrs193922457
hapmaprs193922457
1000 genomesrs193922457
hgdprs193922457
ensemblrs193922457
gopubmedrs193922457
geneviewrs193922457
scholarrs193922457
googlers193922457
pharmgkbrs193922457
gwascentralrs193922457
openSNPrs193922457
23andMers193922457
23andMe allrs193922457
SNP Nexus

SNPshotrs193922457
SNPdbers193922457
MSV3drs193922457
GWAS Ctlgrs193922457
Max Magnitude0
ClinVar
Risk rs193922457(T;T)
Alt rs193922457(T;T)
Reference rs193922457(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.22245657G>T
CLNSRC ClinVar
CLNACC RCV000030355.1,