rs6472

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
google	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,