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rs199469641

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469641(C;T)
Make rs199469641(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137637386
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469641
ebirs199469641
HLIrs199469641
Exacrs199469641
Varsomers199469641
Maprs199469641
PheGenIrs199469641
hapmaprs199469641
1000 genomesrs199469641
hgdprs199469641
ensemblrs199469641
gopubmedrs199469641
geneviewrs199469641
scholarrs199469641
googlers199469641
pharmgkbrs199469641
gwascentralrs199469641
openSNPrs199469641
23andMers199469641
23andMe allrs199469641
SNP Nexus

SNPshotrs199469641
SNPdbers199469641
MSV3drs199469641
GWAS Ctlgrs199469641
Max Magnitude0
ClinVar
Risk rs199469641(T;T)
Alt rs199469641(T;T)
Reference rs199469641(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.136973075G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023474.2, RCV000128521.1,