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rs199469635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199469635(C;T)
Make rs199469635(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137628306
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469635
ebirs199469635
HLIrs199469635
Exacrs199469635
Varsomers199469635
Maprs199469635
PheGenIrs199469635
hapmaprs199469635
1000 genomesrs199469635
hgdprs199469635
ensemblrs199469635
gopubmedrs199469635
geneviewrs199469635
scholarrs199469635
googlers199469635
pharmgkbrs199469635
gwascentralrs199469635
openSNPrs199469635
23andMers199469635
23andMe allrs199469635
SNP Nexus

SNPshotrs199469635
SNPdbers199469635
MSV3drs199469635
GWAS Ctlgrs199469635
Max Magnitude0
ClinVar
Risk rs199469635(T;T)
Alt rs199469635(T;T)
Reference rs199469635(C;C)
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.136963995G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023479.2, RCV000128518.1,