rs118204009
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs118204009(A;A) |
| Make rs118204009(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 57764147 |
| Gene | CYP27B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118204009 |
| dbSNP (classic) | rs118204009 |
| ClinGen | rs118204009 |
| ebi | rs118204009 |
| HLI | rs118204009 |
| Exac | rs118204009 |
| Gnomad | rs118204009 |
| Varsome | rs118204009 |
| LitVar | rs118204009 |
| Map | rs118204009 |
| PheGenI | rs118204009 |
| Biobank | rs118204009 |
| 1000 genomes | rs118204009 |
| hgdp | rs118204009 |
| ensembl | rs118204009 |
| geneview | rs118204009 |
| scholar | rs118204009 |
| rs118204009 | |
| pharmgkb | rs118204009 |
| gwascentral | rs118204009 |
| openSNP | rs118204009 |
| 23andMe | rs118204009 |
| SNPshot | rs118204009 |
| SNPdbe | rs118204009 |
| MSV3d | rs118204009 |
| GWAS Ctlg | rs118204009 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118204009(A;A) |
| Alt | rs118204009(A;A) |
| Reference | Rs118204009(G;G) |
| Significance | Pathogenic |
| Disease | Vitamin D-dependent rickets Vitamin D-Dependent Rickets not provided |
| Variation | info |
| Gene | CYP27B1 |
| CLNDBN | Vitamin D-dependent rickets, type 1 Vitamin D-Dependent Rickets not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.58157930C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001736.4, RCV000263323.1, RCV000481523.1, |
rs118204009 is a loss-of-function substitution of arg389-to-his in the VDR gene known as CYP27B1 R389H PMID 22190362
