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rs121912570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912570(A;A)
Make rs121912570(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position148435553
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912570
ebirs121912570
HLIrs121912570
Exacrs121912570
Varsomers121912570
Maprs121912570
PheGenIrs121912570
hapmaprs121912570
1000 genomesrs121912570
hgdprs121912570
ensemblrs121912570
gopubmedrs121912570
geneviewrs121912570
scholarrs121912570
googlers121912570
pharmgkbrs121912570
gwascentralrs121912570
openSNPrs121912570
23andMers121912570
23andMe allrs121912570
SNP Nexus

SNPshotrs121912570
SNPdbers121912570
MSV3drs121912570
GWAS Ctlgrs121912570
Max Magnitude0
OMIM600983
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912570(A;A)
Alt rs121912570(A;A)
Reference rs121912570(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.149356705A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009099.3,