rs863224872
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a tumoral calcinosis mutation |
(G;G) | 0 | common in clinvar |
Make rs863224872(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 4372649 |
Gene | FGF23 |
is a | snp |
is | mentioned by |
dbSNP | rs863224872 |
dbSNP (classic) | rs863224872 |
ClinGen | rs863224872 |
ebi | rs863224872 |
HLI | rs863224872 |
Exac | rs863224872 |
Gnomad | rs863224872 |
Varsome | rs863224872 |
LitVar | rs863224872 |
Map | rs863224872 |
PheGenI | rs863224872 |
Biobank | rs863224872 |
1000 genomes | rs863224872 |
hgdp | rs863224872 |
ensembl | rs863224872 |
geneview | rs863224872 |
scholar | rs863224872 |
rs863224872 | |
pharmgkb | rs863224872 |
gwascentral | rs863224872 |
openSNP | rs863224872 |
23andMe | rs863224872 |
SNPshot | rs863224872 |
SNPdbe | rs863224872 |
MSV3d | rs863224872 |
GWAS Ctlg | rs863224872 |
Max Magnitude | 3 |
aka c.260G>A (p.Gly87Asp or G87D)
ClinVar | |
---|---|
Risk | rs863224872(A;A) |
Alt | rs863224872(A;A) |
Reference | Rs863224872(G;G) |
Significance | Probable-Pathogenic |
Disease | Tumoral calcinosis |
Variation | info |
Gene | FGF23 |
CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
Reversed | 1 |
HGVS | NC_000012.11:g.4481815C>T |
CLNSRC | |
CLNACC | RCV000197637.1, |