rs201552310

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

32040140

Gene

CYP21A2

is a	snp
is	mentioned by
dbSNP	rs201552310
dbSNP (classic)	rs201552310
ClinGen	rs201552310
ebi	rs201552310
HLI	rs201552310
Exac	rs201552310
Gnomad	rs201552310
Varsome	rs201552310
LitVar	rs201552310
Map	rs201552310
PheGenI	rs201552310
Biobank	rs201552310
1000 genomes	rs201552310
hgdp	rs201552310
ensembl	rs201552310
geneview	rs201552310
scholar	rs201552310
google	rs201552310
pharmgkb	rs201552310
gwascentral	rs201552310
openSNP	rs201552310
23andMe	rs201552310
SNPshot	rs201552310
SNPdbe	rs201552310
MSV3d	rs201552310
GWAS Ctlg	rs201552310

Max Magnitude

5

ClinVar
Risk	Rs201552310(A;A) rs201552310(C;C)
Alt	Rs201552310(A;A) rs201552310(C;C)
Reference	Rs201552310(G;G)
Significance	Pathogenic
Disease	21-hydroxylase deficiency
Variation	info
Gene	CYP21A2
CLNDBN	21-hydroxylase deficiency
Reversed	0
HGVS	NC_000006.11:g.32007917G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012940.2,