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rs387907155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907155(C;T)
Make rs387907155(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137638979
GeneKLHL3
is asnp
is mentioned by
dbSNPrs387907155
dbSNP (classic)rs387907155
ClinGenrs387907155
ebirs387907155
HLIrs387907155
Exacrs387907155
Gnomadrs387907155
Varsomers387907155
LitVarrs387907155
Maprs387907155
PheGenIrs387907155
Biobankrs387907155
1000 genomesrs387907155
hgdprs387907155
ensemblrs387907155
geneviewrs387907155
scholarrs387907155
googlers387907155
pharmgkbrs387907155
gwascentralrs387907155
openSNPrs387907155
23andMers387907155
SNPshotrs387907155
SNPdbers387907155
MSV3drs387907155
GWAS Ctlgrs387907155
Max Magnitude0
ClinVar
Risk rs387907155(T;T)
Alt rs387907155(T;T)
Reference Rs387907155(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 2D
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism type 2D
Reversed 1
HGVS NC_000005.9:g.136974668G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024252.2,