rs397509367

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

32041097

Gene	CYP21A2, TNXB

is a	snp
is	mentioned by
dbSNP	rs397509367
dbSNP (classic)	rs397509367
ClinGen	rs397509367
ebi	rs397509367
HLI	rs397509367
Exac	rs397509367
Gnomad	rs397509367
Varsome	rs397509367
LitVar	rs397509367
Map	rs397509367
PheGenI	rs397509367
Biobank	rs397509367
1000 genomes	rs397509367
hgdp	rs397509367
ensembl	rs397509367
geneview	rs397509367
scholar	rs397509367
google	rs397509367
pharmgkb	rs397509367
gwascentral	rs397509367
openSNP	rs397509367
23andMe	rs397509367
SNPshot	rs397509367
SNPdbe	rs397509367
MSV3d	rs397509367
GWAS Ctlg	rs397509367

Max Magnitude

5

ClinVar
Risk	Rs397509367(C;C)
Alt	Rs397509367(C;C)
Reference	Rs397509367(GG;GG)
Significance	Pathogenic
Disease	21-hydroxylase deficiency
Variation	info
Gene	TNXB CYP21A2
CLNDBN	21-hydroxylase deficiency
Reversed	0
HGVS	NC_000006.11:g.32008874_32008875delGGinsC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012941.2,