rs72554627

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0
(T;T)	0	common in clinvar

Make rs72554627(C;C)

Make rs72554627(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142912546

Gene

CYP11B2

is a	snp
is	mentioned by
dbSNP	rs72554627
dbSNP (classic)	rs72554627
ClinGen	rs72554627
ebi	rs72554627
HLI	rs72554627
Exac	rs72554627
Gnomad	rs72554627
Varsome	rs72554627
LitVar	rs72554627
Map	rs72554627
PheGenI	rs72554627
Biobank	rs72554627
1000 genomes	rs72554627
hgdp	rs72554627
ensembl	rs72554627
geneview	rs72554627
scholar	rs72554627
google	rs72554627
pharmgkb	rs72554627
gwascentral	rs72554627
openSNP	rs72554627
23andMe	rs72554627
SNPshot	rs72554627
SNPdbe	rs72554627
MSV3d	rs72554627
GWAS Ctlg	rs72554627

Max Magnitude

0

OMIM	124080
Desc
Variant	0005
Related	also

ClinVar
Risk	rs72554627(C;C)
Alt	rs72554627(C;C)
Reference	Rs72554627(T;T)
Significance	Pathogenic
Disease	Corticosterone methyloxidase type 1 deficiency
Variation	info
Gene	CYP11B2
CLNDBN	Corticosterone methyloxidase type 1 deficiency
Reversed	1
HGVS	NC_000008.10:g.143993962A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018375.27,