rs72547508

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	0	common in complete genomics

Make rs72547508(C;T)

Make rs72547508(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

74339687

Gene

CYP11A1

is a	snp
is	mentioned by
dbSNP	rs72547508
dbSNP (classic)	rs72547508
ClinGen	rs72547508
ebi	rs72547508
HLI	rs72547508
Exac	rs72547508
Gnomad	rs72547508
Varsome	rs72547508
LitVar	rs72547508
Map	rs72547508
PheGenI	rs72547508
Biobank	rs72547508
1000 genomes	rs72547508
hgdp	rs72547508
ensembl	rs72547508
geneview	rs72547508
scholar	rs72547508
google	rs72547508
pharmgkb	rs72547508
gwascentral	rs72547508
openSNP	rs72547508
23andMe	rs72547508
SNPshot	rs72547508
SNPdbe	rs72547508
MSV3d	rs72547508
GWAS Ctlg	rs72547508

Max Magnitude

0

OMIM	118485
Desc
Variant	0002
Related	also

ClinVar
Risk	rs72547508(T;T)
Alt	rs72547508(T;T)
Reference	Rs72547508(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.74632028G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019069.27,