rs12530380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 3 | Miscall likely if from 23andMe user data |
(T;T) | 0 | common in clinvar |
Make rs12530380(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32039810 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs12530380 |
dbSNP (classic) | rs12530380 |
ClinGen | rs12530380 |
ebi | rs12530380 |
HLI | rs12530380 |
Exac | rs12530380 |
Gnomad | rs12530380 |
Varsome | rs12530380 |
LitVar | rs12530380 |
Map | rs12530380 |
PheGenI | rs12530380 |
Biobank | rs12530380 |
1000 genomes | rs12530380 |
hgdp | rs12530380 |
ensembl | rs12530380 |
geneview | rs12530380 |
scholar | rs12530380 |
rs12530380 | |
pharmgkb | rs12530380 |
gwascentral | rs12530380 |
openSNP | rs12530380 |
23andMe | rs12530380 |
SNPshot | rs12530380 |
SNPdbe | rs12530380 |
MSV3d | rs12530380 |
GWAS Ctlg | rs12530380 |
Max Magnitude | 3 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs12530380(A;A) |
Alt | Rs12530380(A;A) |
Reference | Rs12530380(T;T) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32007587T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012947.3, RCV000055823.1, |