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rs199469632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469632(A;A)
Make rs199469632(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137637317
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469632
ebirs199469632
HLIrs199469632
Exacrs199469632
Varsomers199469632
Maprs199469632
PheGenIrs199469632
hapmaprs199469632
1000 genomesrs199469632
hgdprs199469632
ensemblrs199469632
gopubmedrs199469632
geneviewrs199469632
scholarrs199469632
googlers199469632
pharmgkbrs199469632
gwascentralrs199469632
openSNPrs199469632
23andMers199469632
23andMe allrs199469632
SNP Nexus

SNPshotrs199469632
SNPdbers199469632
MSV3drs199469632
GWAS Ctlgrs199469632
Max Magnitude0
ClinVar
Risk rs199469632(A;A)
Alt rs199469632(A;A)
Reference rs199469632(G;G)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136973006C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023480.2, RCV000128523.1,