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rs199469638

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469638(C;T)
Make rs199469638(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137661950
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469638
ebirs199469638
HLIrs199469638
Exacrs199469638
Varsomers199469638
Maprs199469638
PheGenIrs199469638
hapmaprs199469638
1000 genomesrs199469638
hgdprs199469638
ensemblrs199469638
gopubmedrs199469638
geneviewrs199469638
scholarrs199469638
googlers199469638
pharmgkbrs199469638
gwascentralrs199469638
openSNPrs199469638
23andMers199469638
23andMe allrs199469638
SNP Nexus

SNPshotrs199469638
SNPdbers199469638
MSV3drs199469638
GWAS Ctlgrs199469638
Max Magnitude0
ClinVar
Risk rs199469638(T;T)
Alt rs199469638(T;T)
Reference rs199469638(C;C)
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.136997639G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023476.2, RCV000128514.1,