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rs121912563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912563(C;C)
Make rs121912563(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position148114132
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912563
ebirs121912563
HLIrs121912563
Exacrs121912563
Varsomers121912563
Maprs121912563
PheGenIrs121912563
hapmaprs121912563
1000 genomesrs121912563
hgdprs121912563
ensemblrs121912563
gopubmedrs121912563
geneviewrs121912563
scholarrs121912563
googlers121912563
pharmgkbrs121912563
gwascentralrs121912563
openSNPrs121912563
23andMers121912563
23andMe allrs121912563
SNP Nexus

SNPshotrs121912563
SNPdbers121912563
MSV3drs121912563
GWAS Ctlgrs121912563
Max Magnitude0
OMIM600983
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912563(C;C)
Alt rs121912563(C;C)
Reference rs121912563(T;T)
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.149035283A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009090.2,