rs132630327

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	1	Likely miscall in LivingDNA data
(G;G)	0	common in clinvar

Make rs132630327(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

30309049

Gene

NR0B1

is a	snp
is	mentioned by
dbSNP	rs132630327
dbSNP (classic)	rs132630327
ClinGen	rs132630327
ebi	rs132630327
HLI	rs132630327
Exac	rs132630327
Gnomad	rs132630327
Varsome	rs132630327
LitVar	rs132630327
Map	rs132630327
PheGenI	rs132630327
Biobank	rs132630327
1000 genomes	rs132630327
hgdp	rs132630327
ensembl	rs132630327
geneview	rs132630327
scholar	rs132630327
google	rs132630327
pharmgkb	rs132630327
gwascentral	rs132630327
openSNP	rs132630327
23andMe	rs132630327
SNPshot	rs132630327
SNPdbe	rs132630327
MSV3d	rs132630327
GWAS Ctlg	rs132630327

Max Magnitude

1

OMIM	300473
Desc
Variant	0030
Related	also

ClinVar
Risk	Rs132630327(C;C)
Alt	Rs132630327(C;C)
Reference	Rs132630327(G;G)
Significance	Pathogenic
Disease	Mineralocorticoid deficiency
Variation	info
Gene	NR0B1
CLNDBN	Mineralocorticoid deficiency, isolated
Reversed	1
HGVS	NC_000023.10:g.30327166C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011725.7,