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rs387907156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907156(C;T)
Make rs387907156(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137637338
GeneKLHL3
is asnp
is mentioned by
dbSNPrs387907156
dbSNP (classic)rs387907156
ClinGenrs387907156
ebirs387907156
HLIrs387907156
Exacrs387907156
Gnomadrs387907156
Varsomers387907156
LitVarrs387907156
Maprs387907156
PheGenIrs387907156
Biobankrs387907156
1000 genomesrs387907156
hgdprs387907156
ensemblrs387907156
geneviewrs387907156
scholarrs387907156
googlers387907156
pharmgkbrs387907156
gwascentralrs387907156
openSNPrs387907156
23andMers387907156
SNPshotrs387907156
SNPdbers387907156
MSV3drs387907156
GWAS Ctlgrs387907156
Max Magnitude0
ClinVar
Risk rs387907156(T;T)
Alt rs387907156(T;T)
Reference Rs387907156(C;C)
Significance Pathogenic
Disease Pseudohypoaldosteronism type 2D
Variation info
Gene KLHL3
CLNDBN Pseudohypoaldosteronism type 2D
Reversed 1
HGVS NC_000005.9:g.136973027G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024254.2,