rs761780097
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs761780097(C;T) |
Make rs761780097(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 57765296 |
Gene | CYP27B1 |
is a | snp |
is | mentioned by |
dbSNP | rs761780097 |
dbSNP (classic) | rs761780097 |
ClinGen | rs761780097 |
ebi | rs761780097 |
HLI | rs761780097 |
Exac | rs761780097 |
Gnomad | rs761780097 |
Varsome | rs761780097 |
LitVar | rs761780097 |
Map | rs761780097 |
PheGenI | rs761780097 |
Biobank | rs761780097 |
1000 genomes | rs761780097 |
hgdp | rs761780097 |
ensembl | rs761780097 |
geneview | rs761780097 |
scholar | rs761780097 |
rs761780097 | |
pharmgkb | rs761780097 |
gwascentral | rs761780097 |
openSNP | rs761780097 |
23andMe | rs761780097 |
SNPshot | rs761780097 |
SNPdbe | rs761780097 |
MSV3d | rs761780097 |
GWAS Ctlg | rs761780097 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761780097(T;T) |
Alt | rs761780097(T;T) |
Reference | Rs761780097(C;C) |
Significance | Pathogenic |
Disease | Vitamin D-dependent rickets |
Variation | info |
Gene | CYP27B1 |
CLNDBN | Vitamin D-dependent rickets, type 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.58159079C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001734.3, |