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rs199469628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469628(C;T)
Make rs199469628(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137639862
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469628
ebirs199469628
HLIrs199469628
Exacrs199469628
Varsomers199469628
Maprs199469628
PheGenIrs199469628
hapmaprs199469628
1000 genomesrs199469628
hgdprs199469628
ensemblrs199469628
gopubmedrs199469628
geneviewrs199469628
scholarrs199469628
googlers199469628
pharmgkbrs199469628
gwascentralrs199469628
openSNPrs199469628
23andMers199469628
23andMe allrs199469628
SNP Nexus

SNPshotrs199469628
SNPdbers199469628
MSV3drs199469628
GWAS Ctlgrs199469628
Max Magnitude0
ClinVar
Risk rs199469628(T;T)
Alt rs199469628(T;T)
Reference rs199469628(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136975551G>A
CLNSRC ClinVar
CLNACC RCV000128502.1,