rs61757294

Orientation

plus

Stabilized

plus

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

Make rs61757294(A;G)

Make rs61757294(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142912850

Gene

CYP11B2

is a	snp
is	mentioned by
dbSNP	rs61757294
dbSNP (classic)	rs61757294
ClinGen	rs61757294
ebi	rs61757294
HLI	rs61757294
Exac	rs61757294
Gnomad	rs61757294
Varsome	rs61757294
LitVar	rs61757294
Map	rs61757294
PheGenI	rs61757294
Biobank	rs61757294
1000 genomes	rs61757294
hgdp	rs61757294
ensembl	rs61757294
geneview	rs61757294
scholar	rs61757294
google	rs61757294
pharmgkb	rs61757294
gwascentral	rs61757294
openSNP	rs61757294
23andMe	rs61757294
SNPshot	rs61757294
SNPdbe	rs61757294
MSV3d	rs61757294
GWAS Ctlg	rs61757294

GMAF

0.04316

Max Magnitude

0

aka c.1157T>C (p.Val386Ala)

Classified (by the only submitter) in ClinVar as benign, but still listed in OMIM (as a recessive).

OMIM	124080
Desc
Variant	0001
Related	also

ClinVar
Risk	rs61757294(G;G)
Alt	rs61757294(G;G)
Reference	Rs61757294(A;A)
Significance	Non-pathogenic
Disease	Corticosterone methyloxidase type 2 deficiency Corticosterone methyloxidase type 1 deficiency Hyperaldosteronism
Variation	info
Gene	CYP11B2
CLNDBN	Corticosterone methyloxidase type 2 deficiency Corticosterone methyloxidase type 1 deficiency Hyperaldosteronism, familial, type I
Reversed	0
HGVS	NC_000008.10:g.143994266A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018372.27, RCV000018373.27, RCV000272288.1, RCV000321492.1, RCV000357616.1,