rs104894344

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a tumoral calcinosis mutation

Make rs104894344(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4370713

Gene

FGF23

is a	snp
is	mentioned by
dbSNP	rs104894344
dbSNP (classic)	rs104894344
ClinGen	rs104894344
ebi	rs104894344
HLI	rs104894344
Exac	rs104894344
Gnomad	rs104894344
Varsome	rs104894344
LitVar	rs104894344
Map	rs104894344
PheGenI	rs104894344
Biobank	rs104894344
1000 genomes	rs104894344
hgdp	rs104894344
ensembl	rs104894344
geneview	rs104894344
scholar	rs104894344
google	rs104894344
pharmgkb	rs104894344
gwascentral	rs104894344
openSNP	rs104894344
23andMe	rs104894344
SNPshot	rs104894344
SNPdbe	rs104894344
MSV3d	rs104894344
GWAS Ctlg	rs104894344

Max Magnitude

3

aka c.386C>T (p.Ser129Phe or S129F)

OMIM	605380
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894344(T;T)
Alt	rs104894344(T;T)
Reference	Rs104894344(C;C)
Significance	Pathogenic
Disease	Tumoral calcinosis
Variation	info
Gene	FGF23
CLNDBN	Tumoral calcinosis, familial, hyperphosphatemic
Reversed	1
HGVS	NC_000012.11:g.4479879G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005332.2,