rs193922538

Orientation

minus

Stabilized

minus

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

Make rs193922538(C;T)

Make rs193922538(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

142879689

Gene

CYP11B1

is a	snp
is	mentioned by
dbSNP	rs193922538
dbSNP (classic)	rs193922538
ClinGen	rs193922538
ebi	rs193922538
HLI	rs193922538
Exac	rs193922538
Gnomad	rs193922538
Varsome	rs193922538
LitVar	rs193922538
Map	rs193922538
PheGenI	rs193922538
Biobank	rs193922538
1000 genomes	rs193922538
hgdp	rs193922538
ensembl	rs193922538
geneview	rs193922538
scholar	rs193922538
google	rs193922538
pharmgkb	rs193922538
gwascentral	rs193922538
openSNP	rs193922538
23andMe	rs193922538
SNPshot	rs193922538
SNPdbe	rs193922538
MSV3d	rs193922538
GWAS Ctlg	rs193922538

Max Magnitude

0

ClinVar
Risk	rs193922538(T;T)
Alt	rs193922538(T;T)
Reference	Rs193922538(C;C)
Significance	Probable-Pathogenic
Disease	Congenital adrenal hyperplasia
Variation	info
Gene	CYP11B1
CLNDBN	Congenital adrenal hyperplasia
Reversed	1
HGVS	NC_000008.10:g.143961105G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000029643.1,