rs387906259
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906259(-;-) |
Make rs387906259(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 57765109 |
Gene | CYP27B1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906259 |
dbSNP (classic) | rs387906259 |
ClinGen | rs387906259 |
ebi | rs387906259 |
HLI | rs387906259 |
Exac | rs387906259 |
Gnomad | rs387906259 |
Varsome | rs387906259 |
LitVar | rs387906259 |
Map | rs387906259 |
PheGenI | rs387906259 |
Biobank | rs387906259 |
1000 genomes | rs387906259 |
hgdp | rs387906259 |
ensembl | rs387906259 |
geneview | rs387906259 |
scholar | rs387906259 |
rs387906259 | |
pharmgkb | rs387906259 |
gwascentral | rs387906259 |
openSNP | rs387906259 |
23andMe | rs387906259 |
SNPshot | rs387906259 |
SNPdbe | rs387906259 |
MSV3d | rs387906259 |
GWAS Ctlg | rs387906259 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906259(-;-) |
Alt | rs387906259(-;-) |
Reference | Rs387906259(C;C) |
Significance | Pathogenic |
Disease | Vitamin D-dependent rickets |
Variation | info |
Gene | CYP27B1 |
CLNDBN | Vitamin D-dependent rickets, type 1 |
Reversed | 1 |
HGVS | NC_000012.11:g.58158892delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001730.3, |