rs28935482

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	2
(G;G)	0	common in clinvar

Make rs28935482(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

30308491

Gene

NR0B1

is a	snp
is	mentioned by
dbSNP	rs28935482
dbSNP (classic)	rs28935482
ClinGen	rs28935482
ebi	rs28935482
HLI	rs28935482
Exac	rs28935482
Gnomad	rs28935482
Varsome	rs28935482
LitVar	rs28935482
Map	rs28935482
PheGenI	rs28935482
Biobank	rs28935482
1000 genomes	rs28935482
hgdp	rs28935482
ensembl	rs28935482
geneview	rs28935482
scholar	rs28935482
google	rs28935482
pharmgkb	rs28935482
gwascentral	rs28935482
openSNP	rs28935482
23andMe	rs28935482
SNPshot	rs28935482
SNPdbe	rs28935482
MSV3d	rs28935482
GWAS Ctlg	rs28935482

Max Magnitude

2

OMIM	300473
Desc	ADRENAL HYPOPLASIA, CONGENITAL
Variant	0017
Related	also

ClinVar
Risk	Rs28935482(C;C)
Alt	Rs28935482(C;C)
Reference	Rs28935482(G;G)
Significance	Pathogenic
Disease	Congenital adrenal hypoplasia
Variation	info
Gene	NR0B1
CLNDBN	Congenital adrenal hypoplasia, X-linked
Reversed	1
HGVS	NC_000023.10:g.30326608C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011712.9,