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rs199469645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199469645(A;G)
Make rs199469645(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137625818
GeneKLHL3
is asnp
is mentioned by
dbSNPrs199469645
ebirs199469645
HLIrs199469645
Exacrs199469645
Varsomers199469645
Maprs199469645
PheGenIrs199469645
hapmaprs199469645
1000 genomesrs199469645
hgdprs199469645
ensemblrs199469645
gopubmedrs199469645
geneviewrs199469645
scholarrs199469645
googlers199469645
pharmgkbrs199469645
gwascentralrs199469645
openSNPrs199469645
23andMers199469645
23andMe allrs199469645
SNP Nexus

SNPshotrs199469645
SNPdbers199469645
MSV3drs199469645
GWAS Ctlgrs199469645
Max Magnitude0
ClinVar
Risk rs199469645(G;G)
Alt rs199469645(G;G)
Reference rs199469645(A;A)
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.136961507T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023478.2, RCV000128524.1,