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rs267606945

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606945(C;C)
Make rs267606945(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22094005
GenePHEX
is asnp
is mentioned by
dbSNPrs267606945
dbSNP (classic)rs267606945
ClinGenrs267606945
ebirs267606945
HLIrs267606945
Exacrs267606945
Gnomadrs267606945
Varsomers267606945
LitVarrs267606945
Maprs267606945
PheGenIrs267606945
Biobankrs267606945
1000 genomesrs267606945
hgdprs267606945
ensemblrs267606945
geneviewrs267606945
scholarrs267606945
googlers267606945
pharmgkbrs267606945
gwascentralrs267606945
openSNPrs267606945
23andMers267606945
SNPshotrs267606945
SNPdbers267606945
MSV3drs267606945
GWAS Ctlgrs267606945
Max Magnitude0
ClinVar
Risk rs267606945(C;C)
Alt rs267606945(C;C)
Reference Rs267606945(T;T)
Significance 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.22112123T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011565.7,