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rs121912569

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912569(C;T)
Make rs121912569(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position148081460
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912569
ebirs121912569
HLIrs121912569
Exacrs121912569
Varsomers121912569
Maprs121912569
PheGenIrs121912569
hapmaprs121912569
1000 genomesrs121912569
hgdprs121912569
ensemblrs121912569
gopubmedrs121912569
geneviewrs121912569
scholarrs121912569
googlers121912569
pharmgkbrs121912569
gwascentralrs121912569
openSNPrs121912569
23andMers121912569
23andMe allrs121912569
SNP Nexus

SNPshotrs121912569
SNPdbers121912569
MSV3drs121912569
GWAS Ctlgrs121912569
Max Magnitude0
OMIM600983
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121912569(T;T)
Alt rs121912569(T;T)
Reference rs121912569(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.149002611G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009098.2,