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rs199469625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199469625(A;C)
Make rs199469625(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position137698396
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469625
dbSNP (classic)rs199469625
ClinGenrs199469625
ebirs199469625
HLIrs199469625
Exacrs199469625
Gnomadrs199469625
Varsomers199469625
LitVarrs199469625
Maprs199469625
PheGenIrs199469625
Biobankrs199469625
1000 genomesrs199469625
hgdprs199469625
ensemblrs199469625
geneviewrs199469625
scholarrs199469625
googlers199469625
pharmgkbrs199469625
gwascentralrs199469625
openSNPrs199469625
23andMers199469625
SNPshotrs199469625
SNPdbers199469625
MSV3drs199469625
GWAS Ctlgrs199469625
Max Magnitude0
ClinVar
Risk rs199469625(C;C)
Alt rs199469625(C;C)
Reference Rs199469625(A;A)
Significance Pathogenic
Disease Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.137034085T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000128506.1,