rs6476

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	Congenital adrenal hyperplasia
(A;T)	3	Carrier of allele for congenital adrenal hyperplasia
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

6

Position

32039816

Gene

CYP21A2

is a	snp
is	mentioned by
dbSNP	rs6476
dbSNP (classic)	rs6476
ClinGen	rs6476
ebi	rs6476
HLI	rs6476
Exac	rs6476
Gnomad	rs6476
Varsome	rs6476
LitVar	rs6476
Map	rs6476
PheGenI	rs6476
Biobank	rs6476
1000 genomes	rs6476
hgdp	rs6476
ensembl	rs6476
geneview	rs6476
scholar	rs6476
google	rs6476
pharmgkb	rs6476
gwascentral	rs6476
openSNP	rs6476
23andMe	rs6476
SNPshot	rs6476
SNPdbe	rs6476
MSV3d	rs6476
GWAS Ctlg	rs6476

GMAF

0.005969

Max Magnitude

5

?	(A;A) (A;T) (T;T)	28

ClinVar
Risk	Rs6476(A;A)
Alt	Rs6476(A;A)
Reference	Rs6476(T;T)
Significance	Pathogenic
Disease	21-hydroxylase deficiency
Variation	info
Gene	CYP21A2
CLNDBN	21-hydroxylase deficiency
Reversed	0
HGVS	NC_000006.11:g.32007593T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012947.3, RCV000055823.1,