rs28935481

Orientation

minus

Stabilized

minus

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

Make rs28935481(A;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

30304673

Gene

NR0B1

is a	snp
is	mentioned by
dbSNP	rs28935481
dbSNP (classic)	rs28935481
ClinGen	rs28935481
ebi	rs28935481
HLI	rs28935481
Exac	rs28935481
Gnomad	rs28935481
Varsome	rs28935481
LitVar	rs28935481
Map	rs28935481
PheGenI	rs28935481
Biobank	rs28935481
1000 genomes	rs28935481
hgdp	rs28935481
ensembl	rs28935481
geneview	rs28935481
scholar	rs28935481
google	rs28935481
pharmgkb	rs28935481
gwascentral	rs28935481
openSNP	rs28935481
23andMe	rs28935481
SNPshot	rs28935481
SNPdbe	rs28935481
MSV3d	rs28935481
GWAS Ctlg	rs28935481

Max Magnitude

0

OMIM	300473
Desc	ADRENAL HYPOPLASIA, CONGENITAL
Variant	0008
Related	also

ClinVar
Risk	rs28935481(G;G) Rs28935481(T;T)
Alt	rs28935481(G;G) Rs28935481(T;T)
Reference	Rs28935481(A;A)
Significance	Pathogenic
Disease	Congenital adrenal hypoplasia
Variation	info
Gene	NR0B1
CLNDBN	Congenital adrenal hypoplasia, X-linked
Reversed	1
HGVS	NC_000023.10:g.30322790T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011704.3,