rs121912811

Orientation

minus

Stabilized

minus

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

Make rs121912811(C;T)

Make rs121912811(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

74345103

Gene

CYP11A1

is a	snp
is	mentioned by
dbSNP	rs121912811
dbSNP (classic)	rs121912811
ClinGen	rs121912811
ebi	rs121912811
HLI	rs121912811
Exac	rs121912811
Gnomad	rs121912811
Varsome	rs121912811
LitVar	rs121912811
Map	rs121912811
PheGenI	rs121912811
Biobank	rs121912811
1000 genomes	rs121912811
hgdp	rs121912811
ensembl	rs121912811
geneview	rs121912811
scholar	rs121912811
google	rs121912811
pharmgkb	rs121912811
gwascentral	rs121912811
openSNP	rs121912811
23andMe	rs121912811
SNPshot	rs121912811
SNPdbe	rs121912811
MSV3d	rs121912811
GWAS Ctlg	rs121912811

Max Magnitude

0

OMIM	118485
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912811(T;T)
Alt	rs121912811(T;T)
Reference	Rs121912811(C;C)
Significance	Pathogenic
Disease	Adrenal insufficiency
Variation	info
Gene	CYP11A1
CLNDBN	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
Reversed	1
HGVS	NC_000015.9:g.74637444G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019070.24,