rs104894061

Orientation

minus

Stabilized

minus

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

Make rs104894061(C;T)

Make rs104894061(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142876242

Gene

CYP11B1

is a	snp
is	mentioned by
dbSNP	rs104894061
dbSNP (classic)	rs104894061
ClinGen	rs104894061
ebi	rs104894061
HLI	rs104894061
Exac	rs104894061
Gnomad	rs104894061
Varsome	rs104894061
LitVar	rs104894061
Map	rs104894061
PheGenI	rs104894061
Biobank	rs104894061
1000 genomes	rs104894061
hgdp	rs104894061
ensembl	rs104894061
geneview	rs104894061
scholar	rs104894061
google	rs104894061
pharmgkb	rs104894061
gwascentral	rs104894061
openSNP	rs104894061
23andMe	rs104894061
SNPshot	rs104894061
SNPdbe	rs104894061
MSV3d	rs104894061
GWAS Ctlg	rs104894061

Max Magnitude

0

OMIM	610613
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894061(T;T)
Alt	rs104894061(T;T)
Reference	Rs104894061(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.143957658G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001232.1,