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rs121912568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912568(C;G)
Make rs121912568(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position148436373
GeneNR3C2
is asnp
is mentioned by
dbSNPrs121912568
ebirs121912568
HLIrs121912568
Exacrs121912568
Varsomers121912568
Maprs121912568
PheGenIrs121912568
hapmaprs121912568
1000 genomesrs121912568
hgdprs121912568
ensemblrs121912568
gopubmedrs121912568
geneviewrs121912568
scholarrs121912568
googlers121912568
pharmgkbrs121912568
gwascentralrs121912568
openSNPrs121912568
23andMers121912568
23andMe allrs121912568
SNP Nexus

SNPshotrs121912568
SNPdbers121912568
MSV3drs121912568
GWAS Ctlgrs121912568
Max Magnitude0
OMIM600983
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912568(G;G)
Alt rs121912568(G;G)
Reference rs121912568(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.149357525G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009097.3,