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rs121912567

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912567(C;C)
Make rs121912567(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position148081363
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912567
ebirs121912567
HLIrs121912567
Exacrs121912567
Varsomers121912567
Maprs121912567
PheGenIrs121912567
hapmaprs121912567
1000 genomesrs121912567
hgdprs121912567
ensemblrs121912567
gopubmedrs121912567
geneviewrs121912567
scholarrs121912567
googlers121912567
pharmgkbrs121912567
gwascentralrs121912567
openSNPrs121912567
23andMers121912567
23andMe allrs121912567
SNP Nexus

SNPshotrs121912567
SNPdbers121912567
MSV3drs121912567
GWAS Ctlgrs121912567
Max Magnitude0
OMIM600983
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912567(C;C)
Alt rs121912567(C;C)
Reference rs121912567(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.149002514A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009096.2,