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rs199469656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199469656(A;G)
Make rs199469656(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position224503791
GeneCUL3
is asnp
is mentioned by
dbSNPrs199469656
ebirs199469656
HLIrs199469656
Exacrs199469656
Varsomers199469656
Maprs199469656
PheGenIrs199469656
hapmaprs199469656
1000 genomesrs199469656
hgdprs199469656
ensemblrs199469656
gopubmedrs199469656
geneviewrs199469656
scholarrs199469656
googlers199469656
pharmgkbrs199469656
gwascentralrs199469656
openSNPrs199469656
23andMers199469656
23andMe allrs199469656
SNP Nexus

SNPshotrs199469656
SNPdbers199469656
MSV3drs199469656
GWAS Ctlgrs199469656
Max Magnitude0
ClinVar
Risk rs199469656(G;G)
Alt rs199469656(G;G)
Reference rs199469656(A;A)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism
Variation info
Gene CUL3
CLNDBN Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000002.11:g.225368508T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023258.2, RCV000128493.1,