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rs199469642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199469642(C;C)
Make rs199469642(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137637335
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469642
ebirs199469642
HLIrs199469642
Exacrs199469642
Varsomers199469642
Maprs199469642
PheGenIrs199469642
hapmaprs199469642
1000 genomesrs199469642
hgdprs199469642
ensemblrs199469642
gopubmedrs199469642
geneviewrs199469642
scholarrs199469642
googlers199469642
pharmgkbrs199469642
gwascentralrs199469642
openSNPrs199469642
23andMers199469642
23andMe allrs199469642
SNP Nexus

SNPshotrs199469642
SNPdbers199469642
MSV3drs199469642
GWAS Ctlgrs199469642
Max Magnitude0
ClinVar
Risk rs199469642(C;C)
Alt rs199469642(C;C)
Reference rs199469642(T;T)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136973024A>G
CLNSRC ClinVar
CLNACC RCV000128509.1,