rs876657376
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs876657376(-;-) |
Make rs876657376(-;CT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 54157395 |
Gene | CYP24A1 |
is a | snp |
is | mentioned by |
dbSNP | rs876657376 |
dbSNP (classic) | rs876657376 |
ClinGen | rs876657376 |
ebi | rs876657376 |
HLI | rs876657376 |
Exac | rs876657376 |
Gnomad | rs876657376 |
Varsome | rs876657376 |
LitVar | rs876657376 |
Map | rs876657376 |
PheGenI | rs876657376 |
Biobank | rs876657376 |
1000 genomes | rs876657376 |
hgdp | rs876657376 |
ensembl | rs876657376 |
geneview | rs876657376 |
scholar | rs876657376 |
rs876657376 | |
pharmgkb | rs876657376 |
gwascentral | rs876657376 |
openSNP | rs876657376 |
23andMe | rs876657376 |
SNPshot | rs876657376 |
SNPdbe | rs876657376 |
MSV3d | rs876657376 |
GWAS Ctlg | rs876657376 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657376(-;-) |
Alt | rs876657376(-;-) |
Reference | Rs876657376(CT;CT) |
Significance | Pathogenic |
Disease | Idiopathic hypercalcemia of infancy |
Variation | info |
Gene | CYP24A1 |
CLNDBN | Idiopathic hypercalcemia of infancy |
Reversed | 1 |
HGVS | NC_000020.10:g.52773934_52773935delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022526.29, |