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rs121912562

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912562(C;T)
Make rs121912562(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position148435252
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912562
ebirs121912562
HLIrs121912562
Exacrs121912562
Varsomers121912562
Maprs121912562
PheGenIrs121912562
hapmaprs121912562
1000 genomesrs121912562
hgdprs121912562
ensemblrs121912562
gopubmedrs121912562
geneviewrs121912562
scholarrs121912562
googlers121912562
pharmgkbrs121912562
gwascentralrs121912562
openSNPrs121912562
23andMers121912562
23andMe allrs121912562
SNP Nexus

SNPshotrs121912562
SNPdbers121912562
MSV3drs121912562
GWAS Ctlgrs121912562
GMAF0.0004591
Max Magnitude0
OMIM600983
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912562(G,T;G,T)
Alt rs121912562(G,T;G,T)
Reference rs121912562(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.149356404G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009086.3,