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rs199469623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469623(A;A)
Make rs199469623(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position137709761
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469623
ebirs199469623
HLIrs199469623
Exacrs199469623
Varsomers199469623
Maprs199469623
PheGenIrs199469623
hapmaprs199469623
1000 genomesrs199469623
hgdprs199469623
ensemblrs199469623
gopubmedrs199469623
geneviewrs199469623
scholarrs199469623
googlers199469623
pharmgkbrs199469623
gwascentralrs199469623
openSNPrs199469623
23andMers199469623
23andMe allrs199469623
SNP Nexus

SNPshotrs199469623
SNPdbers199469623
MSV3drs199469623
GWAS Ctlgrs199469623
Max Magnitude0
ClinVar
Risk rs199469623(A,T;A,T)
Alt rs199469623(A,T;A,T)
Reference rs199469623(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.137045450G>T
CLNSRC ClinVar
CLNACC RCV000128504.1,