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rs132630327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630327(C;C)
Make rs132630327(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position30309049
GeneNR0B1
is asnp
is mentioned by
dbSNPrs132630327
ebirs132630327
HLIrs132630327
Exacrs132630327
Varsomers132630327
Maprs132630327
PheGenIrs132630327
hapmaprs132630327
1000 genomesrs132630327
hgdprs132630327
ensemblrs132630327
gopubmedrs132630327
geneviewrs132630327
scholarrs132630327
googlers132630327
pharmgkbrs132630327
gwascentralrs132630327
openSNPrs132630327
23andMers132630327
23andMe allrs132630327
SNP Nexus

SNPshotrs132630327
SNPdbers132630327
MSV3drs132630327
GWAS Ctlgrs132630327
Max Magnitude0
OMIM300473
Desc
Variant0030
Relatedalso
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,