rs104894068

Orientation

minus

Stabilized

minus

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

Make rs104894068(C;T)

Make rs104894068(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142875877

Gene

CYP11B1

is a	snp
is	mentioned by
dbSNP	rs104894068
dbSNP (classic)	rs104894068
ClinGen	rs104894068
ebi	rs104894068
HLI	rs104894068
Exac	rs104894068
Gnomad	rs104894068
Varsome	rs104894068
LitVar	rs104894068
Map	rs104894068
PheGenI	rs104894068
Biobank	rs104894068
1000 genomes	rs104894068
hgdp	rs104894068
ensembl	rs104894068
geneview	rs104894068
scholar	rs104894068
google	rs104894068
pharmgkb	rs104894068
gwascentral	rs104894068
openSNP	rs104894068
23andMe	rs104894068
SNPshot	rs104894068
SNPdbe	rs104894068
MSV3d	rs104894068
GWAS Ctlg	rs104894068

Max Magnitude

0

OMIM	610613
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894068(T;T)
Alt	rs104894068(T;T)
Reference	Rs104894068(C;C)
Significance	Pathogenic
Disease	Deficiency of steroid 11-beta-monooxygenase
Variation	info
Gene	CYP11B1
CLNDBN	Deficiency of steroid 11-beta-monooxygenase
Reversed	1
HGVS	NC_000008.10:g.143957293G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001237.2,