rs104894062

Orientation

minus

Stabilized

minus

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

Make rs104894062(A;A)

Make rs104894062(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142875712

Gene

CYP11B1

is a	snp
is	mentioned by
dbSNP	rs104894062
dbSNP (classic)	rs104894062
ClinGen	rs104894062
ebi	rs104894062
HLI	rs104894062
Exac	rs104894062
Gnomad	rs104894062
Varsome	rs104894062
LitVar	rs104894062
Map	rs104894062
PheGenI	rs104894062
Biobank	rs104894062
1000 genomes	rs104894062
hgdp	rs104894062
ensembl	rs104894062
geneview	rs104894062
scholar	rs104894062
google	rs104894062
pharmgkb	rs104894062
gwascentral	rs104894062
openSNP	rs104894062
23andMe	rs104894062
SNPshot	rs104894062
SNPdbe	rs104894062
MSV3d	rs104894062
GWAS Ctlg	rs104894062

Max Magnitude

0

OMIM	610613
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894062(A;A)
Alt	rs104894062(A;A)
Reference	Rs104894062(G;G)
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.143957128C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001233.1,