rs104894072

Orientation

minus

Stabilized

minus

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

Make rs104894072(A;C)

Make rs104894072(C;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142915047

Gene

CYP11B2

is a	snp
is	mentioned by
dbSNP	rs104894072
dbSNP (classic)	rs104894072
ClinGen	rs104894072
ebi	rs104894072
HLI	rs104894072
Exac	rs104894072
Gnomad	rs104894072
Varsome	rs104894072
LitVar	rs104894072
Map	rs104894072
PheGenI	rs104894072
Biobank	rs104894072
1000 genomes	rs104894072
hgdp	rs104894072
ensembl	rs104894072
geneview	rs104894072
scholar	rs104894072
google	rs104894072
pharmgkb	rs104894072
gwascentral	rs104894072
openSNP	rs104894072
23andMe	rs104894072
SNPshot	rs104894072
SNPdbe	rs104894072
MSV3d	rs104894072
GWAS Ctlg	rs104894072

Max Magnitude

0

OMIM	124080
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894072(C;C)
Alt	rs104894072(C;C)
Reference	Rs104894072(A;A)
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.143996463T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018373.27,