rs28937882

Orientation

minus

Stabilized

minus

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

Make rs28937882(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4370564

Gene

FGF23

is a	snp
is	mentioned by
dbSNP	rs28937882
dbSNP (classic)	rs28937882
ClinGen	rs28937882
ebi	rs28937882
HLI	rs28937882
Exac	rs28937882
Gnomad	rs28937882
Varsome	rs28937882
LitVar	rs28937882
Map	rs28937882
PheGenI	rs28937882
Biobank	rs28937882
1000 genomes	rs28937882
hgdp	rs28937882
ensembl	rs28937882
geneview	rs28937882
scholar	rs28937882
google	rs28937882
pharmgkb	rs28937882
gwascentral	rs28937882
openSNP	rs28937882
23andMe	rs28937882
SNPshot	rs28937882
SNPdbe	rs28937882
MSV3d	rs28937882
GWAS Ctlg	rs28937882

Max Magnitude

5

aka c.535C>T (p.Arg179Trp or R179W)

OMIM	605380
Desc	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
Variant	0002
Related	also

ClinVar
Risk	rs28937882(A;A) rs28937882(T;T)
Alt	rs28937882(A;A) rs28937882(T;T)
Reference	Rs28937882(C;C)
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.4479730G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005329.2, RCV000424624.1,