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rs137853268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853268(A;A)
Make rs137853268(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22094080
GenePHEX
is asnp
is mentioned by
dbSNPrs137853268
ebirs137853268
HLIrs137853268
Exacrs137853268
Varsomers137853268
Maprs137853268
PheGenIrs137853268
hapmaprs137853268
1000 genomesrs137853268
hgdprs137853268
ensemblrs137853268
gopubmedrs137853268
geneviewrs137853268
scholarrs137853268
googlers137853268
pharmgkbrs137853268
gwascentralrs137853268
openSNPrs137853268
23andMers137853268
23andMe allrs137853268
SNP Nexus

SNPshotrs137853268
SNPdbers137853268
MSV3drs137853268
GWAS Ctlgrs137853268
Max Magnitude0
OMIM300550
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853268(A;A)
Alt rs137853268(A;A)
Reference rs137853268(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.22112198T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011563.2,