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rs267606946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606946(A;A)
Make rs267606946(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22094009
GenePHEX
is asnp
is mentioned by
dbSNPrs267606946
dbSNP (classic)rs267606946
ClinGenrs267606946
ebirs267606946
HLIrs267606946
Exacrs267606946
Gnomadrs267606946
Varsomers267606946
LitVarrs267606946
Maprs267606946
PheGenIrs267606946
Biobankrs267606946
1000 genomesrs267606946
hgdprs267606946
ensemblrs267606946
geneviewrs267606946
scholarrs267606946
googlers267606946
pharmgkbrs267606946
gwascentralrs267606946
openSNPrs267606946
23andMers267606946
SNPshotrs267606946
SNPdbers267606946
MSV3drs267606946
GWAS Ctlgrs267606946
Max Magnitude0
ClinVar
Risk rs267606946(A;A)
Alt rs267606946(A;A)
Reference Rs267606946(G;G)
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.22112127G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011565.7,