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rs199469629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469629(A;A)
Make rs199469629(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137639021
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469629
dbSNP (classic)rs199469629
ClinGenrs199469629
ebirs199469629
HLIrs199469629
Exacrs199469629
Gnomadrs199469629
Varsomers199469629
LitVarrs199469629
Maprs199469629
PheGenIrs199469629
Biobankrs199469629
1000 genomesrs199469629
hgdprs199469629
ensemblrs199469629
geneviewrs199469629
scholarrs199469629
googlers199469629
pharmgkbrs199469629
gwascentralrs199469629
openSNPrs199469629
23andMers199469629
SNPshotrs199469629
SNPdbers199469629
MSV3drs199469629
GWAS Ctlgrs199469629
Max Magnitude0
ClinVar
Risk rs199469629(A;A)
Alt rs199469629(A;A)
Reference Rs199469629(G;G)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136974710C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000128516.1,