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rs121912573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912573(C;T)
Make rs121912573(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position148152526
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912573
ebirs121912573
HLIrs121912573
Exacrs121912573
Varsomers121912573
Maprs121912573
PheGenIrs121912573
hapmaprs121912573
1000 genomesrs121912573
hgdprs121912573
ensemblrs121912573
gopubmedrs121912573
geneviewrs121912573
scholarrs121912573
googlers121912573
pharmgkbrs121912573
gwascentralrs121912573
openSNPrs121912573
23andMers121912573
23andMe allrs121912573
SNP Nexus

SNPshotrs121912573
SNPdbers121912573
MSV3drs121912573
GWAS Ctlgrs121912573
Max Magnitude0
OMIM600983
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121912573(T;T)
Alt rs121912573(T;T)
Reference rs121912573(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.149073677G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009102.3,