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rs199469634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469634(A;A)
Make rs199469634(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position137628387
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469634
ebirs199469634
HLIrs199469634
Exacrs199469634
Varsomers199469634
Maprs199469634
PheGenIrs199469634
hapmaprs199469634
1000 genomesrs199469634
hgdprs199469634
ensemblrs199469634
gopubmedrs199469634
geneviewrs199469634
scholarrs199469634
googlers199469634
pharmgkbrs199469634
gwascentralrs199469634
openSNPrs199469634
23andMers199469634
23andMe allrs199469634
SNP Nexus

SNPshotrs199469634
SNPdbers199469634
MSV3drs199469634
GWAS Ctlgrs199469634
Max Magnitude0
ClinVar
Risk rs199469634(A;A)
Alt rs199469634(A;A)
Reference rs199469634(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136964076G>T
CLNSRC ClinVar
CLNACC RCV000128511.1,