rs28931609

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	0

Make rs28931609(C;T)

Make rs28931609(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142915100

Gene

CYP11B2

is a	snp
is	mentioned by
dbSNP	rs28931609
dbSNP (classic)	rs28931609
ClinGen	rs28931609
ebi	rs28931609
HLI	rs28931609
Exac	rs28931609
Gnomad	rs28931609
Varsome	rs28931609
LitVar	rs28931609
Map	rs28931609
PheGenI	rs28931609
Biobank	rs28931609
1000 genomes	rs28931609
hgdp	rs28931609
ensembl	rs28931609
geneview	rs28931609
scholar	rs28931609
google	rs28931609
pharmgkb	rs28931609
gwascentral	rs28931609
openSNP	rs28931609
23andMe	rs28931609
SNPshot	rs28931609
SNPdbe	rs28931609
MSV3d	rs28931609
GWAS Ctlg	rs28931609

Max Magnitude

0

OMIM	124080
Desc	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
Variant	0001
Related	also

ClinVar
Risk	rs28931609(T;T)
Alt	rs28931609(T;T)
Reference	Rs28931609(C;C)
Significance	Pathogenic
Disease	Corticosterone methyloxidase type 2 deficiency
Variation	info
Gene	CYP11B2
CLNDBN	Corticosterone methyloxidase type 2 deficiency
Reversed	1
HGVS	NC_000008.10:g.143996516G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018372.27,