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rs121912565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912565(A;G)
Make rs121912565(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position148154589
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912565
dbSNP (classic)rs121912565
ClinGenrs121912565
ebirs121912565
HLIrs121912565
Exacrs121912565
Gnomadrs121912565
Varsomers121912565
LitVarrs121912565
Maprs121912565
PheGenIrs121912565
Biobankrs121912565
1000 genomesrs121912565
hgdprs121912565
ensemblrs121912565
geneviewrs121912565
scholarrs121912565
googlers121912565
pharmgkbrs121912565
gwascentralrs121912565
openSNPrs121912565
23andMers121912565
SNPshotrs121912565
SNPdbers121912565
MSV3drs121912565
GWAS Ctlgrs121912565
Max Magnitude0
OMIM600983
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912565(G;G)
Alt rs121912565(G;G)
Reference Rs121912565(A;A)
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.149075740T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009094.2,