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rs121912564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912564(A;A)
Make rs121912564(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position148194825
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912564
ebirs121912564
HLIrs121912564
Exacrs121912564
Varsomers121912564
Maprs121912564
PheGenIrs121912564
hapmaprs121912564
1000 genomesrs121912564
hgdprs121912564
ensemblrs121912564
gopubmedrs121912564
geneviewrs121912564
scholarrs121912564
googlers121912564
pharmgkbrs121912564
gwascentralrs121912564
openSNPrs121912564
23andMers121912564
23andMe allrs121912564
SNP Nexus

SNPshotrs121912564
SNPdbers121912564
MSV3drs121912564
GWAS Ctlgrs121912564
Max Magnitude0
OMIM600983
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912564(A;A)
Alt rs121912564(A;A)
Reference rs121912564(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 1 autosomal dominant
Variation info
Gene NR3C2
CLNDBN Pseudohypoaldosteronism type 1 autosomal dominant
Reversed 1
HGVS NC_000004.11:g.149115976G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009093.2,