rs7769409
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | miscallled by 23andMe, but should indicate being a carrier of allele for congenital adrenal hyperplasia |
(T;T) | 5 | Congenital adrenal hyperplasia |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32040535 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs7769409 |
dbSNP (classic) | rs7769409 |
ClinGen | rs7769409 |
ebi | rs7769409 |
HLI | rs7769409 |
Exac | rs7769409 |
Gnomad | rs7769409 |
Varsome | rs7769409 |
LitVar | rs7769409 |
Map | rs7769409 |
PheGenI | rs7769409 |
Biobank | rs7769409 |
1000 genomes | rs7769409 |
hgdp | rs7769409 |
ensembl | rs7769409 |
geneview | rs7769409 |
scholar | rs7769409 |
rs7769409 | |
pharmgkb | rs7769409 |
gwascentral | rs7769409 |
openSNP | rs7769409 |
23andMe | rs7769409 |
SNPshot | rs7769409 |
SNPdbe | rs7769409 |
MSV3d | rs7769409 |
GWAS Ctlg | rs7769409 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs7769409(T;T) |
Alt | Rs7769409(T;T) |
Reference | Rs7769409(C;C) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32008312C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012937.3, RCV000417198.1, |