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rs104894343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894343(C;C)
Make rs104894343(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4372622
GeneFGF23
is asnp
is mentioned by
dbSNPrs104894343
ebirs104894343
HLIrs104894343
Exacrs104894343
Varsomers104894343
Maprs104894343
PheGenIrs104894343
hapmaprs104894343
1000 genomesrs104894343
hgdprs104894343
ensemblrs104894343
gopubmedrs104894343
geneviewrs104894343
scholarrs104894343
googlers104894343
pharmgkbrs104894343
gwascentralrs104894343
openSNPrs104894343
23andMers104894343
23andMe allrs104894343
SNP Nexus

SNPshotrs104894343
SNPdbers104894343
MSV3drs104894343
GWAS Ctlgrs104894343
Max Magnitude0
OMIM605380
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894343(C;C)
Alt rs104894343(C;C)
Reference rs104894343(T;T)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene FGF23
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000012.11:g.4481788A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005331.2,