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rs199469633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469633(A;A)
Make rs199469633(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137628408
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469633
ebirs199469633
HLIrs199469633
Exacrs199469633
Varsomers199469633
Maprs199469633
PheGenIrs199469633
hapmaprs199469633
1000 genomesrs199469633
hgdprs199469633
ensemblrs199469633
gopubmedrs199469633
geneviewrs199469633
scholarrs199469633
googlers199469633
pharmgkbrs199469633
gwascentralrs199469633
openSNPrs199469633
23andMers199469633
23andMe allrs199469633
SNP Nexus

SNPshotrs199469633
SNPdbers199469633
MSV3drs199469633
GWAS Ctlgrs199469633
Max Magnitude0
ClinVar
Risk rs199469633(A;A)
Alt rs199469633(A;A)
Reference rs199469633(G;G)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136964097C>T
CLNSRC ClinVar
CLNACC RCV000128503.1,