rs6471

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

32040110

Gene

CYP21A2

is a	snp
is	mentioned by
dbSNP	rs6471
dbSNP (classic)	rs6471
ClinGen	rs6471
ebi	rs6471
HLI	rs6471
Exac	rs6471
Gnomad	rs6471
Varsome	rs6471
LitVar	rs6471
Map	rs6471
PheGenI	rs6471
Biobank	rs6471
1000 genomes	rs6471
hgdp	rs6471
ensembl	rs6471
geneview	rs6471
scholar	rs6471
google	rs6471
pharmgkb	rs6471
gwascentral	rs6471
openSNP	rs6471
23andMe	rs6471
SNPshot	rs6471
SNPdbe	rs6471
MSV3d	rs6471
GWAS Ctlg	rs6471

Max Magnitude

5

aka c.844G>T, p.Val282Leu and V282L; also known in older literature as Val281Leu or V281L

associated with non-classic 21-OH CAH; see GeneReviews as well as OMIM

[PMID 20617557] Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy

[PMID 20685352] Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy

OMIM	201910
Desc
Variant	0002
Related	also

ClinVar
Risk	rs6471(A;A) rs6471(C;C) Rs6471(T;T)
Alt	rs6471(A;A) rs6471(C;C) Rs6471(T;T)
Reference	Rs6471(G;G)
Significance	Pathogenic
Disease	21-hydroxylase deficiency Adenoma Carcinoma Inborn genetic diseases
Variation	info
Gene	CYP21A2
CLNDBN	21-hydroxylase deficiency Adenoma, cortisol-producing Carcinoma, adrenocortical, androgen-secreting Inborn genetic diseases
Reversed	0
HGVS	NC_000006.11:g.32007887G>C; NC_000006.11:g.32007887G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055820.1, RCV000012934.3, RCV000012935.2, RCV000012936.2, RCV000210728.1, RCV000417198.1,