rs104894347

Orientation

minus

Stabilized

minus

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

Make rs104894347(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4370572

Gene

FGF23

is a	snp
is	mentioned by
dbSNP	rs104894347
dbSNP (classic)	rs104894347
ClinGen	rs104894347
ebi	rs104894347
HLI	rs104894347
Exac	rs104894347
Gnomad	rs104894347
Varsome	rs104894347
LitVar	rs104894347
Map	rs104894347
PheGenI	rs104894347
Biobank	rs104894347
1000 genomes	rs104894347
hgdp	rs104894347
ensembl	rs104894347
geneview	rs104894347
scholar	rs104894347
google	rs104894347
pharmgkb	rs104894347
gwascentral	rs104894347
openSNP	rs104894347
23andMe	rs104894347
SNPshot	rs104894347
SNPdbe	rs104894347
MSV3d	rs104894347
GWAS Ctlg	rs104894347

Max Magnitude

5

aka c.527G>A (p.Arg176Gln or R176Q)

OMIM	605380
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894347(A;A)
Alt	rs104894347(A;A)
Reference	Rs104894347(G;G)
Significance	Pathogenic
Disease	Autosomal dominant hypophosphatemic rickets not provided
Variation	info
Gene	FGF23
CLNDBN	Autosomal dominant hypophosphatemic rickets not provided
Reversed	1
HGVS	NC_000012.11:g.4479738C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005328.2, RCV000254829.1,