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rs121912571

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912571(C;T)
Make rs121912571(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position148154899
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912571
ebirs121912571
HLIrs121912571
Exacrs121912571
Varsomers121912571
Maprs121912571
PheGenIrs121912571
hapmaprs121912571
1000 genomesrs121912571
hgdprs121912571
ensemblrs121912571
gopubmedrs121912571
geneviewrs121912571
scholarrs121912571
googlers121912571
pharmgkbrs121912571
gwascentralrs121912571
openSNPrs121912571
23andMers121912571
23andMe allrs121912571
SNP Nexus

SNPshotrs121912571
SNPdbers121912571
MSV3drs121912571
GWAS Ctlgrs121912571
Max Magnitude0
OMIM600983
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121912571(T;T)
Alt rs121912571(T;T)
Reference rs121912571(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.149076050G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009100.2,