rs104894343

Orientation

minus

Stabilized

minus

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

Make rs104894343(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4372622

Gene

FGF23

is a	snp
is	mentioned by
dbSNP	rs104894343
dbSNP (classic)	rs104894343
ClinGen	rs104894343
ebi	rs104894343
HLI	rs104894343
Exac	rs104894343
Gnomad	rs104894343
Varsome	rs104894343
LitVar	rs104894343
Map	rs104894343
PheGenI	rs104894343
Biobank	rs104894343
1000 genomes	rs104894343
hgdp	rs104894343
ensembl	rs104894343
geneview	rs104894343
scholar	rs104894343
google	rs104894343
pharmgkb	rs104894343
gwascentral	rs104894343
openSNP	rs104894343
23andMe	rs104894343
SNPshot	rs104894343
SNPdbe	rs104894343
MSV3d	rs104894343
GWAS Ctlg	rs104894343

Max Magnitude

3

aka c.287T>C (p.Met96Thr or M96T)

OMIM	605380
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894343(C;C)
Alt	rs104894343(C;C)
Reference	Rs104894343(T;T)
Significance	Pathogenic
Disease	Tumoral calcinosis
Variation	info
Gene	FGF23
CLNDBN	Tumoral calcinosis, familial, hyperphosphatemic
Reversed	1
HGVS	NC_000012.11:g.4481788A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005331.2,