rs267606756
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs267606756(-;T) |
Make rs267606756(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32040186 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606756 |
dbSNP (classic) | rs267606756 |
ClinGen | rs267606756 |
ebi | rs267606756 |
HLI | rs267606756 |
Exac | rs267606756 |
Gnomad | rs267606756 |
Varsome | rs267606756 |
LitVar | rs267606756 |
Map | rs267606756 |
PheGenI | rs267606756 |
Biobank | rs267606756 |
1000 genomes | rs267606756 |
hgdp | rs267606756 |
ensembl | rs267606756 |
geneview | rs267606756 |
scholar | rs267606756 |
rs267606756 | |
pharmgkb | rs267606756 |
gwascentral | rs267606756 |
openSNP | rs267606756 |
23andMe | rs267606756 |
SNPshot | rs267606756 |
SNPdbe | rs267606756 |
MSV3d | rs267606756 |
GWAS Ctlg | rs267606756 |
Merged from | Rs397515532, Rs606231200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606756(T;T) |
Alt | rs267606756(T;T) |
Reference | Rs267606756(-;-) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32007966dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000055821.4, RCV000417198.1, |