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rs199469627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199469627(A;G)
Make rs199469627(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137639955
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469627
ebirs199469627
HLIrs199469627
Exacrs199469627
Varsomers199469627
Maprs199469627
PheGenIrs199469627
hapmaprs199469627
1000 genomesrs199469627
hgdprs199469627
ensemblrs199469627
gopubmedrs199469627
geneviewrs199469627
scholarrs199469627
googlers199469627
pharmgkbrs199469627
gwascentralrs199469627
openSNPrs199469627
23andMers199469627
23andMe allrs199469627
SNP Nexus

SNPshotrs199469627
SNPdbers199469627
MSV3drs199469627
GWAS Ctlgrs199469627
Max Magnitude0
ClinVar
Risk rs199469627(G;G)
Alt rs199469627(G;G)
Reference rs199469627(A;A)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136975644T>C
CLNSRC ClinVar
CLNACC RCV000128513.1,