rs193922702

minus

Geno	Mag	Summary
(A;G)	5	Autosomal dominant hypophosphatemic rickets (predicted)
(G;G)	0	common in clinvar

Make rs193922702(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4370563

Gene

FGF23

is a	snp
is	mentioned by
dbSNP	rs193922702
dbSNP (classic)	rs193922702
ClinGen	rs193922702
ebi	rs193922702
HLI	rs193922702
Exac	rs193922702
Gnomad	rs193922702
Varsome	rs193922702
LitVar	rs193922702
Map	rs193922702
PheGenI	rs193922702
Biobank	rs193922702
1000 genomes	rs193922702
hgdp	rs193922702
ensembl	rs193922702
geneview	rs193922702
scholar	rs193922702
google	rs193922702
pharmgkb	rs193922702
gwascentral	rs193922702
openSNP	rs193922702
23andMe	rs193922702
SNPshot	rs193922702
SNPdbe	rs193922702
MSV3d	rs193922702
GWAS Ctlg	rs193922702

Max Magnitude

5

aka c.536G>A (p.Arg179Gln or R179Q)

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	UniProtKB (protein)
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 17452648 ] BetaKlotho is required for metabolic activity of fibroblast growth factor 21.