rs6475

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 complete genomics

Reference

GRCh38 38.1/141

Chromosome

6

Position

32039426

Gene

CYP21A2

is a	snp
is	mentioned by
dbSNP	rs6475
dbSNP (classic)	rs6475
ClinGen	rs6475
ebi	rs6475
HLI	rs6475
Exac	rs6475
Gnomad	rs6475
Varsome	rs6475
LitVar	rs6475
Map	rs6475
PheGenI	rs6475
Biobank	rs6475
1000 genomes	rs6475
hgdp	rs6475
ensembl	rs6475
geneview	rs6475
scholar	rs6475
google	rs6475
pharmgkb	rs6475
gwascentral	rs6475
openSNP	rs6475
23andMe	rs6475
SNPshot	rs6475
SNPdbe	rs6475
MSV3d	rs6475
GWAS Ctlg	rs6475

Max Magnitude

5

OMIM	201910
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs6475(A;A)
Alt	Rs6475(A;A)
Reference	Rs6475(T;T)
Significance	Pathogenic
Disease	21-hydroxylase deficiency
Variation	info
Gene	CYP21A2
CLNDBN	21-hydroxylase deficiency
Reversed	0
HGVS	NC_000006.11:g.32007203T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012933.2, RCV000416339.1, RCV000416360.1,