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rs104894347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894347(A;A)
Make rs104894347(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position4370572
GeneFGF23
is asnp
is mentioned by
dbSNPrs104894347
ebirs104894347
HLIrs104894347
Exacrs104894347
Varsomers104894347
Maprs104894347
PheGenIrs104894347
hapmaprs104894347
1000 genomesrs104894347
hgdprs104894347
ensemblrs104894347
gopubmedrs104894347
geneviewrs104894347
scholarrs104894347
googlers104894347
pharmgkbrs104894347
gwascentralrs104894347
openSNPrs104894347
23andMers104894347
23andMe allrs104894347
SNP Nexus

SNPshotrs104894347
SNPdbers104894347
MSV3drs104894347
GWAS Ctlgrs104894347
Max Magnitude0
OMIM605380
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894347(A;A)
Alt rs104894347(A;A)
Reference rs104894347(G;G)
Significance Pathogenic
Disease Autosomal dominant hypophosphatemic rickets
Variation info
Gene FGF23
CLNDBN Autosomal dominant hypophosphatemic rickets
Reversed 1
HGVS NC_000012.11:g.4479738C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005328.2,