rs12530380

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	3	Miscall likely if from 23andMe user data
(T;T)	0	common in clinvar

Make rs12530380(A;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

32039810

Gene

CYP21A2

is a	snp
is	mentioned by
dbSNP	rs12530380
dbSNP (classic)	rs12530380
ClinGen	rs12530380
ebi	rs12530380
HLI	rs12530380
Exac	rs12530380
Gnomad	rs12530380
Varsome	rs12530380
LitVar	rs12530380
Map	rs12530380
PheGenI	rs12530380
Biobank	rs12530380
1000 genomes	rs12530380
hgdp	rs12530380
ensembl	rs12530380
geneview	rs12530380
scholar	rs12530380
google	rs12530380
pharmgkb	rs12530380
gwascentral	rs12530380
openSNP	rs12530380
23andMe	rs12530380
SNPshot	rs12530380
SNPdbe	rs12530380
MSV3d	rs12530380
GWAS Ctlg	rs12530380

Max Magnitude

3

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

ClinVar
Risk	Rs12530380(A;A)
Alt	Rs12530380(A;A)
Reference	Rs12530380(T;T)
Significance	Pathogenic
Disease	21-hydroxylase deficiency
Variation	info
Gene	CYP21A2
CLNDBN	21-hydroxylase deficiency
Reversed	0
HGVS	NC_000006.11:g.32007587T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012947.3, RCV000055823.1,

OMIM	201910
Desc
Variant	0017
Related	also