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rs137853270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853270(C;C)
Make rs137853270(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22212922
GenePHEX
is asnp
is mentioned by
dbSNPrs137853270
ebirs137853270
HLIrs137853270
Exacrs137853270
Varsomers137853270
Maprs137853270
PheGenIrs137853270
hapmaprs137853270
1000 genomesrs137853270
hgdprs137853270
ensemblrs137853270
gopubmedrs137853270
geneviewrs137853270
scholarrs137853270
googlers137853270
pharmgkbrs137853270
gwascentralrs137853270
openSNPrs137853270
23andMers137853270
23andMe allrs137853270
SNP Nexus

SNPshotrs137853270
SNPdbers137853270
MSV3drs137853270
GWAS Ctlgrs137853270
Max Magnitude0
OMIM300550
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853270(C;C)
Alt rs137853270(C;C)
Reference rs137853270(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.22231039T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011566.6,