rs114368325
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs114368325(A;A) |
Make rs114368325(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 54158136 |
Gene | CYP24A1 |
is a | snp |
is | mentioned by |
dbSNP | rs114368325 |
dbSNP (classic) | rs114368325 |
ClinGen | rs114368325 |
ebi | rs114368325 |
HLI | rs114368325 |
Exac | rs114368325 |
Gnomad | rs114368325 |
Varsome | rs114368325 |
LitVar | rs114368325 |
Map | rs114368325 |
PheGenI | rs114368325 |
Biobank | rs114368325 |
1000 genomes | rs114368325 |
hgdp | rs114368325 |
ensembl | rs114368325 |
geneview | rs114368325 |
scholar | rs114368325 |
rs114368325 | |
pharmgkb | rs114368325 |
gwascentral | rs114368325 |
openSNP | rs114368325 |
23andMe | rs114368325 |
SNPshot | rs114368325 |
SNPdbe | rs114368325 |
MSV3d | rs114368325 |
GWAS Ctlg | rs114368325 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs114368325(A;A) rs114368325(C;C) |
Alt | rs114368325(A;A) rs114368325(C;C) |
Reference | Rs114368325(G;G) |
Significance | Pathogenic |
Disease | Idiopathic hypercalcemia of infancy Muscle cramps |
Variation | info |
Gene | CYP24A1 |
CLNDBN | Idiopathic hypercalcemia of infancy Muscle cramps |
Reversed | 0 |
HGVS | NC_000020.10:g.52774675G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022528.29, RCV000414890.1, |