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rs121912572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912572(C;G)
Make rs121912572(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position148154892
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912572
ebirs121912572
HLIrs121912572
Exacrs121912572
Varsomers121912572
Maprs121912572
PheGenIrs121912572
hapmaprs121912572
1000 genomesrs121912572
hgdprs121912572
ensemblrs121912572
gopubmedrs121912572
geneviewrs121912572
scholarrs121912572
googlers121912572
pharmgkbrs121912572
gwascentralrs121912572
openSNPrs121912572
23andMers121912572
23andMe allrs121912572
SNP Nexus

SNPshotrs121912572
SNPdbers121912572
MSV3drs121912572
GWAS Ctlgrs121912572
Max Magnitude0
OMIM600983
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121912572(G;G)
Alt rs121912572(G;G)
Reference rs121912572(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.149076043G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009101.2,