rs6472
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | benign polymorphism |
(C;G) | 0 | benign polymorphism |
(G;G) | 0 | common/normal |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32040072 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs6472 |
dbSNP (classic) | rs6472 |
ClinGen | rs6472 |
ebi | rs6472 |
HLI | rs6472 |
Exac | rs6472 |
Gnomad | rs6472 |
Varsome | rs6472 |
LitVar | rs6472 |
Map | rs6472 |
PheGenI | rs6472 |
Biobank | rs6472 |
1000 genomes | rs6472 |
hgdp | rs6472 |
ensembl | rs6472 |
geneview | rs6472 |
scholar | rs6472 |
rs6472 | |
pharmgkb | rs6472 |
gwascentral | rs6472 |
openSNP | rs6472 |
23andMe | rs6472 |
SNPshot | rs6472 |
SNPdbe | rs6472 |
MSV3d | rs6472 |
GWAS Ctlg | rs6472 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
[PMID 25249698] CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles
[PMID 16712666] Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.
ClinVar | |
---|---|
Risk | Rs6472(C;C) |
Alt | Rs6472(C;C) |
Reference | Rs6472(G;G) |
Significance | Non-pathogenic |
Disease | 21-HYDROXYLASE POLYMORPHISM Congenital adrenal hyperplasia 21-hydroxylase deficiency not specified |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-HYDROXYLASE POLYMORPHISM Congenital adrenal hyperplasia 21-hydroxylase deficiency not specified |
Reversed | 0 |
HGVS | NC_000006.11:g.32007849G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024069.2, RCV000029655.2, RCV000055819.1, RCV000252481.1, |