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rs199469647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469647(-;-)
Make rs199469647(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position137661947
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469647
ebirs199469647
HLIrs199469647
Exacrs199469647
Varsomers199469647
Maprs199469647
PheGenIrs199469647
hapmaprs199469647
1000 genomesrs199469647
hgdprs199469647
ensemblrs199469647
gopubmedrs199469647
geneviewrs199469647
scholarrs199469647
googlers199469647
pharmgkbrs199469647
gwascentralrs199469647
openSNPrs199469647
23andMers199469647
23andMe allrs199469647
SNP Nexus

SNPshotrs199469647
SNPdbers199469647
MSV3drs199469647
GWAS Ctlgrs199469647
Max Magnitude0
ClinVar
Risk rs199469647(;)
Alt rs199469647(;)
Reference rs199469647(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136997636delG
CLNSRC ClinVar
CLNACC RCV000128500.1,