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rs121912574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912574(A;G)
Make rs121912574(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position148081384
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912574
ebirs121912574
HLIrs121912574
Exacrs121912574
Varsomers121912574
Maprs121912574
PheGenIrs121912574
hapmaprs121912574
1000 genomesrs121912574
hgdprs121912574
ensemblrs121912574
gopubmedrs121912574
geneviewrs121912574
scholarrs121912574
googlers121912574
pharmgkbrs121912574
gwascentralrs121912574
openSNPrs121912574
23andMers121912574
23andMe allrs121912574
SNP Nexus

SNPshotrs121912574
SNPdbers121912574
MSV3drs121912574
GWAS Ctlgrs121912574
Max Magnitude0
OMIM600983
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121912574(G;G)
Alt rs121912574(G;G)
Reference rs121912574(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.149002535T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009103.2,