rs104894071

Orientation

minus

Stabilized

minus

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

Make rs104894071(A;A)

Make rs104894071(A;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142875730

Gene

CYP11B1

is a	snp
is	mentioned by
dbSNP	rs104894071
dbSNP (classic)	rs104894071
ClinGen	rs104894071
ebi	rs104894071
HLI	rs104894071
Exac	rs104894071
Gnomad	rs104894071
Varsome	rs104894071
LitVar	rs104894071
Map	rs104894071
PheGenI	rs104894071
Biobank	rs104894071
1000 genomes	rs104894071
hgdp	rs104894071
ensembl	rs104894071
geneview	rs104894071
scholar	rs104894071
google	rs104894071
pharmgkb	rs104894071
gwascentral	rs104894071
openSNP	rs104894071
23andMe	rs104894071
SNPshot	rs104894071
SNPdbe	rs104894071
MSV3d	rs104894071
GWAS Ctlg	rs104894071

Max Magnitude

0

OMIM	610613
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894071(A;A)
Alt	rs104894071(A;A)
Reference	Rs104894071(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.143957146G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001246.3,