rs151344503

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

32040766

Gene	CYP21A2, TNXB

is a	snp
is	mentioned by
dbSNP	rs151344503
dbSNP (classic)	rs151344503
ClinGen	rs151344503
ebi	rs151344503
HLI	rs151344503
Exac	rs151344503
Gnomad	rs151344503
Varsome	rs151344503
LitVar	rs151344503
Map	rs151344503
PheGenI	rs151344503
Biobank	rs151344503
1000 genomes	rs151344503
hgdp	rs151344503
ensembl	rs151344503
geneview	rs151344503
scholar	rs151344503
google	rs151344503
pharmgkb	rs151344503
gwascentral	rs151344503
openSNP	rs151344503
23andMe	rs151344503
SNPshot	rs151344503
SNPdbe	rs151344503
MSV3d	rs151344503
GWAS Ctlg	rs151344503

Max Magnitude

5

ClinVar
Risk	Rs151344503(A;A)
Alt	Rs151344503(A;A)
Reference	Rs151344503(G;G)
Significance	Pathogenic
Disease	21-hydroxylase deficiency
Variation	info
Gene	TNXB CYP21A2
CLNDBN	21-hydroxylase deficiency
Reversed	0
HGVS	NC_000006.11:g.32008543G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012953.2,