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rs193922702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922702(A;A)
Make rs193922702(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position4370563
GeneFGF23
is asnp
is mentioned by
dbSNPrs193922702
ebirs193922702
HLIrs193922702
Exacrs193922702
Varsomers193922702
Maprs193922702
PheGenIrs193922702
hapmaprs193922702
1000 genomesrs193922702
hgdprs193922702
ensemblrs193922702
gopubmedrs193922702
geneviewrs193922702
scholarrs193922702
googlers193922702
pharmgkbrs193922702
gwascentralrs193922702
openSNPrs193922702
23andMers193922702
23andMe allrs193922702
SNP Nexus

SNPshotrs193922702
SNPdbers193922702
MSV3drs193922702
GWAS Ctlgrs193922702
Max Magnitude0
ClinVar
Risk rs193922702(A;A)
Alt rs193922702(A;A)
Reference rs193922702(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.4479729C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029798.1,


[PMID 16436] Distribution of coronary blood flow in the left ventricular wall of dogs evaluated by the uptake of Xe-133.

[PMID 11409890] FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate.

[PMID 12874285] Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX.

[PMID 15182416] Physiological regulation of renal sodium-dependent phosphate cotransporters.

[PMID 15836777] Fibroblast growth factor 23 reduces expression of type IIa Na+/Pi co-transporter by signaling through a receptor functionally distinct from the known FGFRs in opossum kidney cells.

[PMID 17452648OA-icon.png] BetaKlotho is required for metabolic activity of fibroblast growth factor 21.