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rs121912566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912566(A;A)
Make rs121912566(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position148259978
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912566
ebirs121912566
HLIrs121912566
Exacrs121912566
Varsomers121912566
Maprs121912566
PheGenIrs121912566
hapmaprs121912566
1000 genomesrs121912566
hgdprs121912566
ensemblrs121912566
gopubmedrs121912566
geneviewrs121912566
scholarrs121912566
googlers121912566
pharmgkbrs121912566
gwascentralrs121912566
openSNPrs121912566
23andMers121912566
23andMe allrs121912566
SNP Nexus

SNPshotrs121912566
SNPdbers121912566
MSV3drs121912566
GWAS Ctlgrs121912566
Max Magnitude0
OMIM600983
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912566(A;A)
Alt rs121912566(A;A)
Reference rs121912566(G;G)
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.149181130C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009095.2,