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rs199469646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469646(C;T)
Make rs199469646(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137625765
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469646
ebirs199469646
HLIrs199469646
Exacrs199469646
Varsomers199469646
Maprs199469646
PheGenIrs199469646
hapmaprs199469646
1000 genomesrs199469646
hgdprs199469646
ensemblrs199469646
gopubmedrs199469646
geneviewrs199469646
scholarrs199469646
googlers199469646
pharmgkbrs199469646
gwascentralrs199469646
openSNPrs199469646
23andMers199469646
23andMe allrs199469646
SNP Nexus

SNPshotrs199469646
SNPdbers199469646
MSV3drs199469646
GWAS Ctlgrs199469646
Max Magnitude0
ClinVar
Risk rs199469646(T;T)
Alt rs199469646(T;T)
Reference rs199469646(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136961454G>A
CLNSRC ClinVar
CLNACC RCV000128520.1,