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rs199469630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199469630(C;C)
Make rs199469630(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137639012
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469630
ebirs199469630
HLIrs199469630
Exacrs199469630
Varsomers199469630
Maprs199469630
PheGenIrs199469630
hapmaprs199469630
1000 genomesrs199469630
hgdprs199469630
ensemblrs199469630
gopubmedrs199469630
geneviewrs199469630
scholarrs199469630
googlers199469630
pharmgkbrs199469630
gwascentralrs199469630
openSNPrs199469630
23andMers199469630
23andMe allrs199469630
SNP Nexus

SNPshotrs199469630
SNPdbers199469630
MSV3drs199469630
GWAS Ctlgrs199469630
Max Magnitude0
ClinVar
Risk rs199469630(C;C)
Alt rs199469630(C;C)
Reference rs199469630(T;T)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136974701A>G
CLNSRC ClinVar
CLNACC RCV000128508.1,