rs387906510

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

32039133

Gene

CYP21A2

is a	snp
is	mentioned by
dbSNP	rs387906510
dbSNP (classic)	rs387906510
ClinGen	rs387906510
ebi	rs387906510
HLI	rs387906510
Exac	rs387906510
Gnomad	rs387906510
Varsome	rs387906510
LitVar	rs387906510
Map	rs387906510
PheGenI	rs387906510
Biobank	rs387906510
1000 genomes	rs387906510
hgdp	rs387906510
ensembl	rs387906510
geneview	rs387906510
scholar	rs387906510
google	rs387906510
pharmgkb	rs387906510
gwascentral	rs387906510
openSNP	rs387906510
23andMe	rs387906510
SNPshot	rs387906510
SNPdbe	rs387906510
MSV3d	rs387906510
GWAS Ctlg	rs387906510

Max Magnitude

5

ClinVar
Risk	Rs387906510(-;-)
Alt	Rs387906510(-;-)
Reference	Rs387906510(GAGACTAC;GAGACTAC)
Significance	Pathogenic
Disease	21-hydroxylase deficiency
Variation	info
Gene	CYP21A2
CLNDBN	21-hydroxylase deficiency
Reversed	0
HGVS	NC_000006.11:g.32006910_32006917delGAGACTAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012946.2,