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rs137853271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853271(C;T)
Make rs137853271(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22212957
GenePHEX
is asnp
is mentioned by
dbSNPrs137853271
ebirs137853271
HLIrs137853271
Exacrs137853271
Varsomers137853271
Maprs137853271
PheGenIrs137853271
hapmaprs137853271
1000 genomesrs137853271
hgdprs137853271
ensemblrs137853271
gopubmedrs137853271
geneviewrs137853271
scholarrs137853271
googlers137853271
pharmgkbrs137853271
gwascentralrs137853271
openSNPrs137853271
23andMers137853271
23andMe allrs137853271
SNP Nexus

SNPshotrs137853271
SNPdbers137853271
MSV3drs137853271
GWAS Ctlgrs137853271
Max Magnitude0
OMIM300550
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137853271(A,T;A,T)
Alt rs137853271(A,T;A,T)
Reference rs137853271(C;C)
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.22231074C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011569.6,