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rs28937882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Autosomal dominant hypophosphatemic rickets (predicted)
Make rs28937882(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4370564
GeneFGF23
is asnp
is mentioned by
dbSNPrs28937882
dbSNP (classic)rs28937882
ClinGenrs28937882
ebirs28937882
HLIrs28937882
Exacrs28937882
Gnomadrs28937882
Varsomers28937882
LitVarrs28937882
Maprs28937882
PheGenIrs28937882
Biobankrs28937882
1000 genomesrs28937882
hgdprs28937882
ensemblrs28937882
geneviewrs28937882
scholarrs28937882
googlers28937882
pharmgkbrs28937882
gwascentralrs28937882
openSNPrs28937882
23andMers28937882
SNPshotrs28937882
SNPdbers28937882
MSV3drs28937882
GWAS Ctlgrs28937882
Max Magnitude5

aka c.535C>T (p.Arg179Trp or R179W)

OMIM605380
DescHYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
Variant0002
Relatedalso


ClinVar
Risk rs28937882(A;A) rs28937882(T;T)
Alt rs28937882(A;A) rs28937882(T;T)
Reference Rs28937882(C;C)
Significance Pathogenic
Disease Autosomal dominant hypophosphatemic rickets not provided
Variation info
Gene FGF23
CLNDBN Autosomal dominant hypophosphatemic rickets not provided
Reversed 1
HGVS NC_000012.11:g.4479730G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005329.2, RCV000424624.1,