Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853269(A;A)
Make rs137853269(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position22047116
GenePHEX
is asnp
is mentioned by
dbSNPrs137853269
ebirs137853269
HLIrs137853269
Exacrs137853269
Varsomers137853269
Maprs137853269
PheGenIrs137853269
hapmaprs137853269
1000 genomesrs137853269
hgdprs137853269
ensemblrs137853269
gopubmedrs137853269
geneviewrs137853269
scholarrs137853269
googlers137853269
pharmgkbrs137853269
gwascentralrs137853269
openSNPrs137853269
23andMers137853269
23andMe allrs137853269
SNP Nexus

SNPshotrs137853269
SNPdbers137853269
MSV3drs137853269
GWAS Ctlgrs137853269
Max Magnitude0
OMIM300550
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853269(A;A)
Alt rs137853269(A;A)
Reference rs137853269(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.22065234G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011564.2,