rs193922701

Orientation

minus

Stabilized

minus

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

Make rs193922701(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4379421

Gene

FGF23

is a	snp
is	mentioned by
dbSNP	rs193922701
dbSNP (classic)	rs193922701
ClinGen	rs193922701
ebi	rs193922701
HLI	rs193922701
Exac	rs193922701
Gnomad	rs193922701
Varsome	rs193922701
LitVar	rs193922701
Map	rs193922701
PheGenI	rs193922701
Biobank	rs193922701
1000 genomes	rs193922701
hgdp	rs193922701
ensembl	rs193922701
geneview	rs193922701
scholar	rs193922701
google	rs193922701
pharmgkb	rs193922701
gwascentral	rs193922701
openSNP	rs193922701
23andMe	rs193922701
SNPshot	rs193922701
SNPdbe	rs193922701
MSV3d	rs193922701
GWAS Ctlg	rs193922701

Max Magnitude

5

aka c.162G>C (p.Gln54His or Q54H)

ClinVar
Risk	rs193922701(C;C)
Alt	rs193922701(C;C)
Reference	Rs193922701(G;G)
Significance	Probable-Pathogenic
Disease	Autosomal dominant hypophosphatemic rickets
Variation	info
Gene	FGF23
CLNDBN	Autosomal dominant hypophosphatemic rickets
Reversed	1
HGVS	NC_000012.11:g.4488587C>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029797.1,