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rs199469648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469648(A;A)
Make rs199469648(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137661914
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469648
ebirs199469648
HLIrs199469648
Exacrs199469648
Varsomers199469648
Maprs199469648
PheGenIrs199469648
hapmaprs199469648
1000 genomesrs199469648
hgdprs199469648
ensemblrs199469648
gopubmedrs199469648
geneviewrs199469648
scholarrs199469648
googlers199469648
pharmgkbrs199469648
gwascentralrs199469648
openSNPrs199469648
23andMers199469648
23andMe allrs199469648
SNP Nexus

SNPshotrs199469648
SNPdbers199469648
MSV3drs199469648
GWAS Ctlgrs199469648
Max Magnitude0
ClinVar
Risk rs199469648(A;A)
Alt rs199469648(A;A)
Reference rs199469648(G;G)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136997603C>T
CLNSRC ClinVar
CLNACC RCV000128501.1,