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rs199469640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469640(G;T)
Make rs199469640(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137639874
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469640
ebirs199469640
HLIrs199469640
Exacrs199469640
Varsomers199469640
Maprs199469640
PheGenIrs199469640
hapmaprs199469640
1000 genomesrs199469640
hgdprs199469640
ensemblrs199469640
gopubmedrs199469640
geneviewrs199469640
scholarrs199469640
googlers199469640
pharmgkbrs199469640
gwascentralrs199469640
openSNPrs199469640
23andMers199469640
23andMe allrs199469640
SNP Nexus

SNPshotrs199469640
SNPdbers199469640
MSV3drs199469640
GWAS Ctlgrs199469640
Max Magnitude0
ClinVar
Risk rs199469640(T;T)
Alt rs199469640(T;T)
Reference rs199469640(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.136975563C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023477.2, RCV000128515.1,