rs9378251

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

32038514

Gene

CYP21A2

is a	snp
is	mentioned by
dbSNP	rs9378251
dbSNP (classic)	rs9378251
ClinGen	rs9378251
ebi	rs9378251
HLI	rs9378251
Exac	rs9378251
Gnomad	rs9378251
Varsome	rs9378251
LitVar	rs9378251
Map	rs9378251
PheGenI	rs9378251
Biobank	rs9378251
1000 genomes	rs9378251
hgdp	rs9378251
ensembl	rs9378251
geneview	rs9378251
scholar	rs9378251
google	rs9378251
pharmgkb	rs9378251
gwascentral	rs9378251
openSNP	rs9378251
23andMe	rs9378251
SNPshot	rs9378251
SNPdbe	rs9378251
MSV3d	rs9378251
GWAS Ctlg	rs9378251

Max Magnitude

5

aka c.92C>T, p.Pro31Leu and P31L

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

OMIM	201910
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs9378251(T;T)
Alt	Rs9378251(T;T)
Reference	Rs9378251(C;C)
Significance	Pathogenic
Disease	21-hydroxylase deficiency
Variation	info
Gene	CYP21A2
CLNDBN	21-hydroxylase deficiency
Reversed	0
HGVS	NC_000006.11:g.32006291C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012938.3,