rs104894342

Orientation

minus

Stabilized

minus

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

Make rs104894342(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4379372

Gene

FGF23

is a	snp
is	mentioned by
dbSNP	rs104894342
dbSNP (classic)	rs104894342
ClinGen	rs104894342
ebi	rs104894342
HLI	rs104894342
Exac	rs104894342
Gnomad	rs104894342
Varsome	rs104894342
LitVar	rs104894342
Map	rs104894342
PheGenI	rs104894342
Biobank	rs104894342
1000 genomes	rs104894342
hgdp	rs104894342
ensembl	rs104894342
geneview	rs104894342
scholar	rs104894342
google	rs104894342
pharmgkb	rs104894342
gwascentral	rs104894342
openSNP	rs104894342
23andMe	rs104894342
SNPshot	rs104894342
SNPdbe	rs104894342
MSV3d	rs104894342
GWAS Ctlg	rs104894342

Max Magnitude

3

aka c.211A>G (p.Ser71Gly or S71G)

OMIM	605380
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894342(G;G)
Alt	rs104894342(G;G)
Reference	Rs104894342(A;A)
Significance	Other
Disease	Tumoral calcinosis not provided
Variation	info
Gene	FGF23
CLNDBN	Tumoral calcinosis, familial, hyperphosphatemic not provided
Reversed	1
HGVS	NC_000012.11:g.4488538T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005330.2, RCV000412723.1,