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rs199469636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199469636(A;A)
Make rs199469636(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137628305
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469636
ebirs199469636
HLIrs199469636
Exacrs199469636
Varsomers199469636
Maprs199469636
PheGenIrs199469636
hapmaprs199469636
1000 genomesrs199469636
hgdprs199469636
ensemblrs199469636
gopubmedrs199469636
geneviewrs199469636
scholarrs199469636
googlers199469636
pharmgkbrs199469636
gwascentralrs199469636
openSNPrs199469636
23andMers199469636
23andMe allrs199469636
SNP Nexus

SNPshotrs199469636
SNPdbers199469636
MSV3drs199469636
GWAS Ctlgrs199469636
Max Magnitude0
ClinVar
Risk rs199469636(A;A)
Alt rs199469636(A;A)
Reference rs199469636(G;G)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism, type 2
Reversed 1
HGVS NC_000005.9:g.136963994C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023475.3, RCV000128519.1,