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rs199469653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469653(C;T)
Make rs199469653(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position224503825
GeneCUL3
is asnp
is mentioned by
dbSNPrs199469653
ebirs199469653
HLIrs199469653
Exacrs199469653
Varsomers199469653
Maprs199469653
PheGenIrs199469653
hapmaprs199469653
1000 genomesrs199469653
hgdprs199469653
ensemblrs199469653
gopubmedrs199469653
geneviewrs199469653
scholarrs199469653
googlers199469653
pharmgkbrs199469653
gwascentralrs199469653
openSNPrs199469653
23andMers199469653
23andMe allrs199469653
SNP Nexus

SNPshotrs199469653
SNPdbers199469653
MSV3drs199469653
GWAS Ctlgrs199469653
Max Magnitude0
ClinVar
Risk rs199469653(T;T)
Alt rs199469653(T;T)
Reference rs199469653(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene CUL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000002.11:g.225368542G>A
CLNSRC ClinVar
CLNACC RCV000128490.1,