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rs863224872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a tumoral calcinosis mutation
(G;G) 0 common in clinvar


Make rs863224872(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position4372649
GeneFGF23
is asnp
is mentioned by
dbSNPrs863224872
dbSNP (classic)rs863224872
ClinGenrs863224872
ebirs863224872
HLIrs863224872
Exacrs863224872
Gnomadrs863224872
Varsomers863224872
LitVarrs863224872
Maprs863224872
PheGenIrs863224872
Biobankrs863224872
1000 genomesrs863224872
hgdprs863224872
ensemblrs863224872
geneviewrs863224872
scholarrs863224872
googlers863224872
pharmgkbrs863224872
gwascentralrs863224872
openSNPrs863224872
23andMers863224872
SNPshotrs863224872
SNPdbers863224872
MSV3drs863224872
GWAS Ctlgrs863224872
Max Magnitude3

aka c.260G>A (p.Gly87Asp or G87D)

ClinVar
Risk rs863224872(A;A)
Alt rs863224872(A;A)
Reference Rs863224872(G;G)
Significance Probable-Pathogenic
Disease Tumoral calcinosis
Variation info
Gene FGF23
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000012.11:g.4481815C>T
CLNSRC
CLNACC RCV000197637.1,