rs121909801
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909801(C;T) |
Make rs121909801(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 47879026 |
Gene | VDR |
is a | snp |
is | mentioned by |
dbSNP | rs121909801 |
dbSNP (classic) | rs121909801 |
ClinGen | rs121909801 |
ebi | rs121909801 |
HLI | rs121909801 |
Exac | rs121909801 |
Gnomad | rs121909801 |
Varsome | rs121909801 |
LitVar | rs121909801 |
Map | rs121909801 |
PheGenI | rs121909801 |
Biobank | rs121909801 |
1000 genomes | rs121909801 |
hgdp | rs121909801 |
ensembl | rs121909801 |
geneview | rs121909801 |
scholar | rs121909801 |
rs121909801 | |
pharmgkb | rs121909801 |
gwascentral | rs121909801 |
openSNP | rs121909801 |
23andMe | rs121909801 |
SNPshot | rs121909801 |
SNPdbe | rs121909801 |
MSV3d | rs121909801 |
GWAS Ctlg | rs121909801 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909801(G;G) rs121909801(T;T) |
Alt | rs121909801(G;G) rs121909801(T;T) |
Reference | Rs121909801(C;C) |
Significance | Pathogenic |
Disease | Vitamin D-dependent rickets |
Variation | info |
Gene | VDR |
CLNDBN | Vitamin D-dependent rickets, type 2 |
Reversed | 1 |
HGVS | NC_000012.11:g.48272809G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008198.3, |